Dag Erik Undlien

• Penna-Martinez, Marissa; Meyer, Gesine; Wolff, Anette Susanne Bøe; Skinningsrud, Beate; Betterle, Corrado & Falorni, Alberto [Show all 12 contributors for this article] (2021). Vitamin D status and pathway genes in five European autoimmune Addison's disease cohorts. European Journal of Endocrinology (EJE). ISSN 0804-4643. 184(3), p. 373–381. doi: 10.1530/EJE-20-0956.
• Aslaksen, Sigrid; Wolff, Anette Susanne Bøe; Vigeland, Magnus Dehli; Breivik, Lars Ertesvåg; Sheng, Ying & Oftedal, Bergithe Eikeland [Show all 11 contributors for this article] (2019). Identification and characterization of rare Toll-like receptor 3 variants in patients with autoimmune Addison’s disease. Journal of translational autoimmunity. ISSN 2589-9090. 1. doi: 10.1016/j.jtauto.2019.100005. Full text in Research Archive
• Aslaksen, Sigrid; Methlie, Paal; Vigeland, Magnus Dehli; Jøssang, Dag Eirik; Wolff, Anette Susanne Bøe & Sheng, Ying [Show all 12 contributors for this article] (2019). Coexistence of congenital adrenal hyperplasia and autoimmune Addison's disease. Frontiers in Endocrinology. ISSN 1664-2392. 10:648, p. 1–5. doi: 10.3389/fendo.2019.00648. Full text in Research Archive
• Wikenius, Ellen; Myhre, Anne Margrethe; Page, Christian Magnus; Moe, Vibeke; Smith, Lars & Heiervang, Einar [Show all 8 contributors for this article] (2019). Prenatal maternal depressive symptoms and infant DNA methylation: a longitudinal epigenome-wide study. Nordic Journal of Psychiatry. ISSN 0803-9488. 73(4-5), p. 257–263. doi: 10.1080/08039488.2019.1613446. Full text in Research Archive
• Norum, Jan; Grindedal, Eli Marie; Heramb, Cecilie; Karsrud, Inga; Ariansen, Sarah Louise & Undlien, Dag Erik [Show all 8 contributors for this article] (2018). BRCA mutation carrier detection. A model-based cost-effectiveness analysis comparing the traditional family history approach and the testing of all patients with breast cancer. ESMO Open. ISSN 2059-7029. 3(3). doi: 10.1136/esmoopen-2018-000328. Full text in Research Archive
• Grindedal, Eli Marie; Heramb, Cecilie; Karsrud, Inga; Ariansen, Sarah Louise; Mæhle, Lovise Olaug & Undlien, Dag Erik [Show all 8 contributors for this article] (2017). Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers. BMC Cancer. ISSN 1471-2407. 17:438, p. 1–13. doi: 10.1186/s12885-017-3422-2. Full text in Research Archive
• Moen, Marivi Nabong; Fjær, Roar; Hamdani, El Hassan; Lærdahl, Jon Kristen; Menchini, Robin Johansen & Vigeland, Magnus Dehli [Show all 12 contributors for this article] (2016). Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport. Brain. ISSN 0006-8950. 139, p. 3109–3120. doi: 10.1093/brain/aww244.
• Solberg, Berge & Undlien, Dag Erik (2016). Da genetikken traff Norge. In Frønes, Ivar & Kjølsrød, Lise (Ed.), Det norske samfunn, bind 3. Gyldendal Akademisk. ISSN 9788205496927. p. 136–159. Show summary

  Norge er i dag på alle områder et høyteknologisk samfunn, og nordmenn er kjent for å være i tet når det gjelder å ta i bruk ny teknologi. Men noen teknologier skapte bekymring og uro snarere enn optimisme og entusiasme da de traff det norske samfunnet: På områdene bioteknologi og genteknologi har etikkdebattene stått i kø. En slags eksistensiell redsel har vært forbundet med disse teknologiene, godt portrettert i diverse dystopiske romaner og spillefilmer. Det har skjedd en enorm utvikling fra James Watson og Francis Crick oppdaget DNA, eller rettere sagt strukturen på DNA, i 1953 og frem til dagens prestisjeprosjekter i genomikk, som analyserer hundretusener eller millioner av menneskers DNA. Det humane genomprosjektet, som offisielt ble avsluttet i 2001, og en rivende teknologiutvikling i årene etter, har ført til at genomsekvensering er på full fart inn i det norske helsevesenet. Dette vil etter all sannsynlighet føre til en alminneliggjøring og avmystifisering av genetikken. Gamle debatter vil tape interesse mens nye vil få desto større aktualitet.

• Gervin, Kristina; Kulle, Bettina; Hjorthaug, Hanne Sagsveen; Carlsen, Karin C. Lødrup; Carlsen, Kai-Håkon & Undlien, Dag Erik [Show all 8 contributors for this article] (2016). Intra-individual changes in DNA methylation not mediated by cell-type composition are correlated with aging during childhood. Clinical Epigenetics. ISSN 1868-7075. 8:110, p. 1–12. doi: 10.1186/s13148-016-0277-3.
• Filges, Isabel; Bruder, Elisabeth; Brandal, Kristin; Meier, Stephanie; Undlien, Dag Erik & Waage, Trine Rygvold [Show all 19 contributors for this article] (2016). Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF. Human Mutation. ISSN 1059-7794. 37(4), p. 359–363. doi: 10.1002/humu.22960.
• Wolff, Anette Susanne Bøe; Mitchell, Anna L.; Cordell, Heather J.; Short, Andrea; Skinningsrud, Beate & Ollier, William [Show all 13 contributors for this article] (2015). CTLA-4 as a genetic determinant in autoimmune Addison's disease. Genes and Immunity. ISSN 1466-4879. 16(6), p. 430–436. doi: 10.1038/gene.2015.27. Full text in Research Archive
• Krogvold, Lars; Edwin, Bjørn; Buanes, Trond; Frisk, Gun; Skog, Oskar & Anagandula, Mahesh [Show all 19 contributors for this article] (2015). Detection of a low-grade enteroviral infection in the islets of langerhans of living patients newly diagnosed with type 1 diabetes. Diabetes. ISSN 0012-1797. 64(5), p. 1682–1687. doi: 10.2337/db14-1370. Show summary

  The Diabetes Virus Detection study (DiViD) is the first to examine fresh pancreatic tissue at the diagnosis of type 1 diabetes for the presence of viruses. Minimal pancreatic tail resection was performed 3-9 weeks after onset of type 1 diabetes in six adult patients (age 24-35 years). The presence of enteroviral capsid protein 1 (VP1) and the expression of class I HLA were investigated by immunohistochemistry. Enterovirus RNA was analyzed from isolated pancreatic islets and from fresh-frozen whole pancreatic tissue using PCR and sequencing. Nondiabetic organ donors served as controls. VP1 was detected in the islets of all type 1 diabetic patients (two of nine controls). Hyperexpression of class I HLA molecules was found in the islets of all patients (one of nine controls). Enterovirus-specific RNA sequences were detected in four of six patients (zero of six controls). The results were confirmed in various laboratories. Only 1.7% of the islets contained VP1(+) cells, and the amount of enterovirus RNA was low. The results provide evidence for the presence of enterovirus in pancreatic islets of type 1 diabetic patients, which is consistent with the possibility that a low-grade enteroviral infection in the pancreatic islets contributes to disease progression in humans.

• Brønstad, Ingeborg; Skinningsrud, Beate; Bratland, Eirik; Løvås, Kristian; Undlien, Dag Erik & Husebye, Eystein Sverre [Show all 7 contributors for this article] (2014). CYP21A2 polymorphisms in patients with autoimmune Addison's disease, and linkage disequilibrium to HLA risk alleles. European Journal of Endocrinology (EJE). ISSN 0804-4643. 171(6), p. 743–750. doi: 10.1530/EJE-14-0432.
• Mitchell, Anna L.; Macarthur, Katie D.R.; Gan, Earn H.; Baggott, Lucy E.; Wolff, Anette Susanne Bøe & Skinningsrud, Beate [Show all 36 contributors for this article] (2014). Association of autoimmune Addison's disease with alleles of STAT4 and GATA3 in European Cohorts. PLOS ONE. ISSN 1932-6203. 9(3:e88991). doi: 10.1371/journal.pone.0088991. Full text in Research Archive
• Irgens, Henrik Underthun; Molnes, Janne; Johansson, Bente Berg; Ringdal, Monika; Skrivarhaug, Torild & Undlien, Dag Erik [Show all 10 contributors for this article] (2013). Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry. Diabetologia. ISSN 0012-186X. 56(7), p. 1512–1519. doi: 10.1007/s00125-013-2916-y.
• Torjussen, Tale Mæhre; Munthe-Kaas, Monica Cheng; Mowinckel, Petter ; Carlsen, Kai-Håkon; Undlien, Dag Erik & Carlsen, Karin C. Lødrup (2013). Childhood lung function and the association with beta 2-adrenergic receptor haplotypes. Acta Paediatrica. ISSN 0803-5253. 102(7), p. 727–731. doi: 10.1111/apa.12221.
• Hekman, Katherine E.; Yu, Guo-Yun; Brown, C.; Zhu, Haipeng; Du, Xiaofei & Gervin, Kristina [Show all 14 contributors for this article] (2012). A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult. Human Molecular Genetics. ISSN 0964-6906. 21(26), p. 5472–5483. doi: 10.1093/hmg/dds392.
• Gilfillan, Gregor Duncan; Hughes, Timothy; Sheng, Ying; Hjorthaug, Hanne Sagsveen; Straub, Tobias & Gervin, Kristina [Show all 9 contributors for this article] (2012). Limitations and possibilities of low cell number ChIP-seq. BMC Genomics. ISSN 1471-2164. 13. doi: 10.1186/1471-2164-13-645.
• Munthe-Kaas, Monica Cheng; Bertelsen, Randi Jacobsen; Torjussen, Tale Mæhre; Hjorthaug, Hanne Sagsveen; Undlien, Dag Erik & Lyle, Robert [Show all 11 contributors for this article] (2012). Pet keeping and tobacco exposure influence CD14 methylation in childhood. Pediatric Allergy and Immunology. ISSN 0905-6157. 23(8), p. 746–753. doi: 10.1111/pai.12021.
• Eike, Morten Christoph; Skinningsrud, Beate; Ronninger, Marcus; Stormyr, Alice; Kvien, Tore Kristian & Joner, Geir [Show all 13 contributors for this article] (2012). CIITA gene variants are associated with rheumatoid arthritis in Scandinavian populations. Genes and Immunity. ISSN 1466-4879. 13(5), p. 431–436. doi: 10.1038/gene.2012.11. Show summary

  Expression of the major autoimmune risk loci DRB1 and DQB1 is regulated by the class II MHC (major histocompatibility complex) transactivator (CIITA), making the CIITA gene a strong autoimmune risk locus candidate. A CIITA promoter single-nucleotide polymorphism (SNP), rs3087456 (-168 A/G), has indeed been associated with several autoimmune diseases, including rheumatoid arthritis (RA). Recently, an intronic SNP rs8048002 has been suggested as a better susceptibility marker in Addison's disease. Therefore, we tested both SNPs in a panel of autoimmune diseases, consisting of Norwegian patients with RA (n=819), juvenile idiopathic arthritis (JIA; n=524), or type 1 diabetes (T1D; n=1211), and 2149 controls. We also included an independent Swedish RA cohort (n=2503) and controls (n=1416). Both rs3087456 and rs8048002 were significantly associated with RA (combined Norwegian and Swedish patients P(corrected)=0.012 and P(corrected)=0.0016, respectively), but not with JIA or T1D. Meta-analysis of 16 RA cohorts confirmed rs3087456 with only marginal significance (P=0.016). However, results were stronger in the Scandinavian subgroup (4 cohorts, P=3.8 × 10(-4)), indicating a population-dependent effect. A similar pattern was observed in a meta-analysis of rs8048002. Our results support involvement of CIITA in RA, but imply that this is population dependent and that the aetiological variant is yet to be discovered.

• Gervin, Kristina; Vigeland, Magnus Dehli; Mattingsdal, Morten; Hammerø, Martin; Nygård, Heidi & Olsen, Anne Olaug [Show all 10 contributors for this article] (2012). DNA Methylation and Gene Expression Changes in Monozygotic Twins Discordant for Psoriasis: Identification of Epigenetically Dysregulated Genes. PLoS Genetics. ISSN 1553-7390. 8(1). doi: 10.1371/journal.pgen.1002454.
• Torjussen, Tale Mæhre; Carlsen, Karin C. Lødrup; Munthe-Kaas, Monica Cheng; Mowinckel, Petter ; Carlsen, Kai-Håkon & Helms, Peter J [Show all 13 contributors for this article] (2012). Alpha-nicotinic acetylcholine receptor and tobacco smoke exposure: Effects on bronchial hyperresponsiveness in children. Pediatric Allergy and Immunology. ISSN 0905-6157. 23(1), p. 40–49. doi: 10.1111/j.1399-3038.2011.01222.x.
• Selmer, Kaja Kristine; Gilfillan, Gregor Duncan; Strømme, Petter; Lyle, Robert; Hughes, Timothy & Hjorthaug, Hanne Sagsveen [Show all 13 contributors for this article] (2012). A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions. European Journal of Human Genetics. ISSN 1018-4813. 20(1), p. 58–63. doi: 10.1038/ejhg.2011.126.
• Skinningsrud, Beate; Lie, Benedicte Alexandra; Lavant, Ewa; Carlson, Joyce A.; Erlich, Henry & Akselsen, Hanne Elisabeth [Show all 12 contributors for this article] (2011). Multiple loci in the HLA complex are associated with Addison's Disease. Journal of Clinical Endocrinology and Metabolism (JCEM). ISSN 0021-972X. 96(10), p. E1703–E1708. doi: 10.1210/jc.2011-0645.
• Gervin, Kristina; Hammerø, Martin; Akselsen, Hanne Elisabeth; Moe, Rune; Nygård, Heidi & Brandt, Ingunn [Show all 10 contributors for this article] (2011). Extensive variation and low heritability of DNA methylation identified in a twin study. Genome Research. ISSN 1088-9051. 21(11), p. 1813–1821. doi: 10.1101/gr.119685.110.
• Mero, Inger-Lise; Ban, Maria; Lorentzen, Åslaug Rudjord; SMESTAD, CATHRINE; Celius, Elisabeth Gulowsen & Sæther, Hanne Skarpodde [Show all 18 contributors for this article] (2011). Exploring the CLEC16A gene reveals a MS-associated variant with correlation to the relative expression of CLEC16A isoforms in thymus. Genes and Immunity. ISSN 1466-4879. 12(3), p. 191–198. doi: 10.1038/gene.2010.59.
• Stene, Lars Christian; Rønningen, Kjersti Skjold; Undlien, Dag Erik & Joner, Geir (2011). Does the relative risk for type 1 diabetes conferred by HLA-DQ, INS, and PTPN22 polymorphisms vary with maternal age, birth weight, or cesarean section? Pediatric Diabetes. ISSN 1399-543X. 12(2), p. 91–94. doi: 10.1111/j.1399-5448.2010.00669.x.
• Wangensteen, Urd Teresia; Akselsen, Hanne Elisabeth; Holmen, Jostein; Undlien, Dag Erik & Retterstøl, Lars (2011). A Common Haplotype in NAPEPLD Is Associated With Severe Obesity in a Norwegian Population-Based Cohort (the HUNT Study). Obesity. ISSN 1930-7381. 19(3), p. 612–617. doi: 10.1038/oby.2010.219.
• Wangensteen, Urd Teresia; Egeland, Thore; Akselsen, Hanne Elisabeth; Holmen, Jostein; Undlien, Dag Erik & Retterstøl, Lars (2010). FTO Genotype and Weight Gain in Obese and Normal Weight Adults From a Norwegian Population Based Cohort (the HUNT Study). Experimental and clinical endocrinology & diabetes. ISSN 0947-7349. 118(9), p. 649–652. doi: 10.1055/s-0030-1249636.
• Skinningsrud, Beate; Lie, Benedicte; Husebye, Eystein S; Kvien, Tore K; Førre, Øystein & Flatø, Berit [Show all 11 contributors for this article] (2010). A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-cyclic citrullinated peptide antibody negative rheumatoid arthritis. Annals of the Rheumatic Diseases. ISSN 0003-4967. 69(8), p. 1471–1474. doi: 10.1136/ard.2009.114934.
• Stene, Lars Christian; Rønningen, Kjersti Skjold; Bjørnvold, Marit; Undlien, Dag E & Joner, Geir (2010). An inverse association between history of childhood eczema and subsequent risk of type 1 diabetes that is not likely to be explained by HLA-DQ, PTPN22, or CTLA4 polymorphisms. Pediatric Diabetes. ISSN 1399-543X. 11(6), p. 386–393. doi: 10.1111/j.1399-5448.2009.00605.x.
• Munthe-Kaas, Monica Cheng; Torjussen, Tale Mæhre; Gervin, Kristina; Carlsen, Karin C. Lødrup; Carlsen, Kai-Håkon & Granum, Berit [Show all 9 contributors for this article] (2010). CD14 polymorphisms and serum CD14 levels through childhood: A role for gene methylation? Journal of Allergy and Clinical Immunology. ISSN 0091-6749. 125(6), p. 1361–1368. doi: 10.1016/j.jaci.2010.02.010.
• Selmer, Kaja Kristine; Grønddahl, Jan Robert; Riise, Ruth; Brandal, Kristin; Braaten, Øivind & Bragadottir, Ragnheidur [Show all 7 contributors for this article] (2010). Autosomal dominant pericentral retinal dystrophy caused by a novel missense mutation in the TOPORS gene. Acta Ophthalmologica. ISSN 1755-375X. 88(3), p. 323–328. doi: 10.1111/j.1755-3768.2008.01465.x.
• Bjørnvold, Marit; Munthe-Kaas, Monica Cheng; Egeland, Thore; Joner, Geir; Dahl-Jørgensen, Knut & Njølstad, Pål Rasmus [Show all 11 contributors for this article] (2009). A TLR2 polymorphism is associated with type 1 diabetes and allergic asthma. Genes and Immunity. ISSN 1466-4879. 10(2), p. 181–187. doi: 10.1038/gene.2008.100.
• Eike, MC; Olsson, M; Undlien, DE; Dahl-Jørgensen, Knut; Joner, Geir & Rønningen, Kjersti Skjold [Show all 8 contributors for this article] (2009). Genetic variants of the HLA-A, HLA-B and AIF1 loci show independent associations with type 1 diabetes in Norwegian families. Genes and Immunity. ISSN 1466-4879. 10(2), p. 141–150. doi: 10.1038/gene.2008.88.
• Stene, LC; Rønningen, KS; Bjørnvold, Marit; Undlien, Dag Erik & Joner, Geir (2009). An inverse association between history of childhood eczema and subsequent risk of type 1 diabetes that is not likely to be explained by HLA-DQ, PTPN22, or CTLA4 polymorphisms. Pediatric Diabetes. ISSN 1399-543X.
• Mitchell, AL; Cordell, HJ; Soemedi, R; Owen, K; Skinningsrud, Beate & Wolff, AB [Show all 10 contributors for this article] (2009). Programmed death ligand 1 (PD-L1) gene variants contribute to autoimmune Addison's disease and Graves' disease susceptibility. Journal of Clinical Endocrinology and Metabolism (JCEM). ISSN 0021-972X. 94(12), p. 5139–5145. doi: 10.1210/jc.2009-1404.
• Skinningsrud, Beate; Lie, Benedicte Alexandra; Husebye, Eystein; Kvien, TK; Førre, Øystein Thorleiv & Flatø, Berit [Show all 11 contributors for this article] (2009). A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-CCP negative rheumatoid arthritis. Annals of the Rheumatic Diseases. ISSN 0003-4967. doi: 10.1136/ard.2009.114934.
• Selmer, Kaja K.; Brandal, Kristin; Olstad, Ole K.; Birkenes, Bård; Undlien, Dag E. & Egeland, Thore (2009). Genome-wide Linkage Analysis with Clustered SNP Markers. Journal of Biomolecular Screening. ISSN 1087-0571. 14(1), p. 92–96. doi: 10.1177/1087057108327327.
• Viken, Marte K; Blomhoff, Anne; Olsson, M; Akselsen, Hanne Elisabeth; Pociot, F & Nerup, J [Show all 11 contributors for this article] (2009). Reproducible association with type 1 diabetes in the extended class I region of the major histocompatibility complex. Genes and Immunity. ISSN 1466-4879. 10(4), p. 323–333. doi: 10.1038/gene.2009.13.
• Wangensteen, Urd Teresia; Kolsgaard, Magnhild; Mattingsdal, M; Joner, Geir; Tonstad, S & Undlien, Dag Erik [Show all 7 contributors for this article] (2009). Mutations in the Melanocortin 4 Receptor (MC4R) Gene in Obese Patients in Norway. Experimental and clinical endocrinology & diabetes. ISSN 0947-7349. 117(6), p. 266–273. doi: 10.1055/s-0028-1102942.
• Selmer, Kaja K.; Eriksson, AS; Brandal, K; Egeland, Thore; Tallaksen, C & Undlien, DE (2009). Parental SCN1A mutation mosaicism in familial Dravet syndrome. Clinical Genetics. ISSN 0009-9163. 76(4), p. 398–403. doi: 10.1111/j.1399-0004.2009.01208.x.
• Erichsen, Martina Moter; Erichsen, Martina M; Løvås, Kristian; Skinningsrud, Beate; Wolff, Anette & Undlien, Dag E [Show all 16 contributors for this article] (2009). Clinical, Immunological, and Genetic Features of Autoimmune Primary Adrenal Insufficiency: Observations from a Norwegian Registry. Journal of Clinical Endocrinology and Metabolism (JCEM). ISSN 0021-972X. 94(12), p. 4882–4890. doi: 10.1210/jc.2009-1368.
• Skinningsrud, Beate; Husebye, Einar; Husebye, Eystein Sverre; Gilfillan, Gregor D; Frengen, Eirik & Erichsen, Aage [Show all 13 contributors for this article] (2009). X-Linked Congenital Adrenal Hypoplasia with Hypogonadotropic Hypogonadism Caused by an Inversion Disrupting a Conserved Noncoding Element Upstream of the NR0B1 (DAX1) Gene. Journal of Clinical Endocrinology and Metabolism (JCEM). ISSN 0021-972X. 94(10), p. 4086–4093. doi: 10.1210/jc.2009-0923.
• Selmer, KK; Lund, C; Brandal, K; Undlien, DE & Brodtkorb, Eylert (2009). SCN1A mutation screening in adult patients with Lennox-Gastaut syndrome features. Epilepsy & Behavior. ISSN 1525-5050. 16(3), p. 555–557. doi: 10.1016/j.yebeh.2009.08.021.
• Magitta, Ng'weina Francis; Wolff, Anette Susanne Bøe; Johansson, Stefan; Skinningsrud, Beate; Lie, Benedicte A & Myhr, Kjell-Morten [Show all 13 contributors for this article] (2009). A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes. Genes and Immunity. ISSN 1466-4879. 10(2), p. 120–124. doi: 10.1038/gene.2008.85.
• Bratland, Eirik; Skinningsrud, B; Undlien, Dag Erik; Mozes, Edna & Husebye, Eystein Sverre (2009). T Cell Responses to Steroid Cytochrome P450 21-Hydroxylase in Patients with Autoimmune Primary Adrenal Insufficiency. Journal of Clinical Endocrinology and Metabolism (JCEM). ISSN 0021-972X. 94(12), p. 5117–5124. doi: 10.1210/jc.2009-1115.
• Mitchell, Anna L.; Cordell, Heather J.; Soemedi, Rachel; Skinningsrud, Beate; Wolff, Anette Susanne Bøe & Ericksen, Martina [Show all 9 contributors for this article] (2009). Programmed Death Ligand 1 (PD-L1) Gene Variants Contribute to Autoimmune Addison’s Disease and Graves’ Disease Susceptibility. Journal of Clinical Endocrinology and Metabolism (JCEM). ISSN 0021-972X. 94(12), p. 5139–5145. doi: 10.1210/jc.2009-1404.
• Gilfillan, Gregor Duncan; Selmer, Kaja Kristine; Roxrud, Ingrid; Smith, Raffaella; Kyllerman, Mårten & Eiklid, Kristin Louise [Show all 27 contributors for this article] (2008). SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome. American Journal of Human Genetics. ISSN 0002-9297. 82(4), p. 1003–1010. doi: 10.1016/j.ajhg.2008.01.013..
• Munthe-Kaas, Monica Cheng; Carlsen, Kai-Håkon; Håland, Geir; Devulapalli, Chandra S.; Gervin, Kristina & Egeland, Thore [Show all 8 contributors for this article] (2008). T cell–specific T-box transcription factor haplotype is associated with allergic asthma in children. Journal of Allergy and Clinical Immunology. ISSN 0091-6749. 121. doi: 10.1016/j.jaci.2007.07.068. Show summary

  BACKGROUND: T cell-specific T-box transcription factor (T-bet) is a member of the T-box family of transcription factors regulating lineage commitment of T(H) lymphocytes toward a predominant T(H)1 phenotype. Asthma and allergy are common complex diseases characterized by T(H)2-mediated inflammation. OBJECTIVE: We aimed to assess possible relationships between the T-bet gene (TBX21) and asthma and allergy in children. METHOD: Twelve single nucleotide polymorphisms (SNPs) in the TBX21 region were genotyped in 948 children from the Environment and Childhood Asthma study. Allele and haplotype frequencies were compared in children with and without asthma (by 10 years) and allergy (>/=1 positive skin prick test response), as well as for the quantitative traits bronchial hyperresponsiveness determined by means of methacholine bronchial challenge testing, lung function determined by means of forced flow volume loops, fractional exhaled nitric oxide measurement, eosinophil count, and serum total IgE level. RESULTS: Allergic asthma was significantly associated with 2 of the tested SNPs (rs11650354 and rs16947078) and further associated with the particular haplotype including these SNPs, with homozygote status resulting in an odds ratio of 8.3 (95% CI, 2.5-26.9) for allergic asthma. Neither nonallergic asthma or "allergy alone" nor the remaining quantitative variables were associated with TBX21 SNPs or haplotypes. CONCLUSION: An association between a specific TBX21 haplotype and allergic asthma in children is demonstrated for the first time and might explain previously detected associations between SNPs within TBX21 and asthma and bronchial hyperresponsiveness. CLINICAL IMPLICATIONS: T-bet genetics might identify individuals at risk for allergic asthma

• Selmer, Kaja Kristine; Egeland, Thore; Solaas, Marit Hornberg; Nakken, KO; Kjeldsen, MJ & Friis, ML [Show all 9 contributors for this article] (2008). Genetic screening of Scandinavian families with febrile seizures and epilepsy or GEFS+. Acta Neurologica Scandinavica. ISSN 0001-6314. 117(4), p. 289–292. doi: 10.1111/j.1600-0404.2007.00941.x.
• Bjørnvold, Marit; Undlien, DE; Joner, Geir; Dahl-Jørgensen, Knut; Njølstad, Pål Rasmus & Akselsen, HE [Show all 9 contributors for this article] (2008). Joint effects of HLA, INS, PTPN22 and CTLA4 genes on the risk of type 1 diabetes. Diabetologia. ISSN 0012-186X. 51(4), p. 589–596. doi: 10.1007/s00125-008-0932-0.
• Eike, MC; Namløs, Gry Beate; Nordang, GBN; Karlsen, TH; Boberg, KM & Vatn, MH [Show all 16 contributors for this article] (2008). The FCRL3 -169T>C polymorphism is associated with rheumatoid arthritis and shows suggestive evidence of involvement with juvenile idiopathic arthritis in a Scandinavian panel of autoimmune diseases. Annals of the Rheumatic Diseases. ISSN 0003-4967. 67(9), p. 1287–1291. doi: 10.1136/ard.2007.077826.
• Skinningsrud, Beate; Husebye, Eystein Sverre; Gervin, Kristina; Løvås, Kristian; Lovas, K & Blomhoff, Anne [Show all 10 contributors for this article] (2008). Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease. European Journal of Human Genetics. ISSN 1018-4813. 16(8), p. 977–982. doi: 10.1038/ejhg.2008.33.
• Eike, Morten Christoph; Olsson, M; Undlien, Dag Erik; Dahl-Jørgensen, Knut; Joner, Geir & Rønningen, Kjersti Skjold [Show all 8 contributors for this article] (2008). Genetic variants of the HLA-A, HLA-B and AIF1 loci show independent associations with type 1 diabetes in Norwegian families. Genes and Immunity. ISSN 1466-4879.
• Skinningsrud, Beate; Husebye, Eystein Sverre; Pearce, Simon H.; McDonald, David O.; Brandal, Kristin & Wolff, Anette Susanne Bøe [Show all 11 contributors for this article] (2008). Polymorphisms in CLEC16A and CIITA at 16p13 are associated with primary adrenal insufficiency. Journal of Clinical Endocrinology and Metabolism (JCEM). ISSN 0021-972X. 93(9), p. 3310–3317. doi: 10.1210/jc.2008-0821.
• Magitta, Ng’weina Francis ; Bøe, AS; Johansson, S; Skinningsrud, Beate; Lie, Benedicte Alexandra & Myhr, KM [Show all 13 contributors for this article] (2008). A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes. Genes and Immunity. ISSN 1466-4879. doi: 10.1038/gene.2008.85.
• Molven, Anders; Ringdal, Monika; Nordbø, Anita-Merete; Nordbo, AM; Ræder, Helge & Raeeder, H [Show all 20 contributors for this article] (2008). Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. Diabetes. ISSN 0012-1797. 57(4), p. 1131–1135. doi: 10.2337/db07-1467.
• Farooqi, I. Sadaf; Wangensteen, Teresia; Collins, Stephan; Kimber, Wendy; Matarese, Giuseppe & Keogh, Julia M. [Show all 25 contributors for this article] (2007). Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. New England Journal of Medicine. ISSN 0028-4793. 356, p. 237–247.
• Munthe-Kaas, Monica Cheng; Gerritsen, J.; Carlsen, Kai-Håkon; Undlien, Dag Erik; Egeland, T & Skinningsrud, Beate [Show all 8 contributors for this article] (2007). Eosinophil cationic protein (ECP) polymorphisms and association with asthma, s-ECP levels and related phenotypes. Allergy. European Journal of Allergy and Clinical Immunology. ISSN 0105-4538. 62(4), p. 429–436. doi: 10.1111/j.1398-9995.2007.01327.x. Show summary

  Background: Eosinophil cationic protein (ECP) is a potent cytotoxic secretory protein with bactericidal and antiviral properties. ECP is released by activated eosinophils and regarded as a marker of eosinophilic inflammation. High levels of ECP have been reported in cases of active asthma and other allergic diseases. This study aimed to assess whether three single-nucleotide polymorphisms (SNPs) in the ECP gene (RNASE3) on chromosome 14 q24–q31 or their haplotypes are associated with asthma, allergy, or related phenotypes. Methods: The three SNPs −38CA, +371CG and +499CG in RNASE3 and their haplotypes were analyzed for associations with asthma, serum-ECP (s-ECP) levels, allergic sensitization (positive skin-prick test to common allergens), bronchial hyperresponsiveness (BHR) assessed by methacholine inhalation, and serum-IgE (s-IgE) levels in 177 families from Norway and the Netherlands identified through siblings with asthma. Results: Transmission disequilibrium test (TDT) demonstrated significant associations between the A-G-G haplotype and asthma as well as the specific phenotypes allergic asthma (but not non-allergic asthma), high s-ECP, high s-IgE and BHR, while the C-G-G haplotype was associated with reduced occurrence of these traits. In addition, the −38A allele was associated with high s-ECP levels and allergic asthma. Conclusion: The present study suggests that the A-G-G haplotype in the RNASE3 gene influences the development of asthma, in particular, an allergic form of asthma. Furthermore, as the −38CA SNP lies in close vicinity of known intron-regulatory sites, results of SNP analysis suggest that the detected association is possibly linked to a genetic transcriptional control of s-ECP levels.

• Munthe-Kaas, Monica Cheng; Carlsen, Karin C. Lødrup; Carlsen, Kai-Håkon; Egeland, T; Håland, Geir & Devulapalli, Chandra S. [Show all 8 contributors for this article] (2007). HLA Dr-Dq haplotypes and the TNFA-308 polymorphism: associations with asthma and allergy. Allergy. European Journal of Allergy and Clinical Immunology. ISSN 0105-4538. 62(9), p. 991–998. doi: 10.1111/j.1398-9995.2007.01377.x. Show summary

  Background: The HLA (human leukocyte antigen) class II genes DQB1 and DRB1 and the Tumor Necrosis Factor α gene (TNFA) within the HLA complex (chromosome 6p21) have been associated with asthma and allergy. Due to the strong linkage disequilibrium characterizing this complex and the multiple asthma/allergy expressions, we aimed to determine which of these genes were primarily involved in specific asthma/allergy traits. Methods: The DRB1–DQB1 alleles and TNFA-308 polymorphism were genotyped in 959 children from the Environment and Childhood Asthma study and analyzed for possible associations with allergic and non-allergic asthma (with/without at least one positive skin prick test for allergens) and specific allergic sensitization, as well as bronchial hyperresponsiveness and total IgE, using both allele and extended haplotype analyses. Results: Different genes within the HLA complex were associated with separate asthma and allergy traits. Nonallergic asthma was associated with both the TNFA-308A allele [Odds ratio (OR) 1.7 (1.3–2.3)] and DRB1*03 allele [OR 1.6(1–2.6)], but extended DRB1*03-TNFA-308 haplotype analysis suggested that the DRB1–DQB1 association was secondary to linkage disequilibrium with the TNFA-308 polymorphism. Allergies were associated with HLA class II alleles only; birch sensitization with DQB1*0603-DRB1*13 [OR 2.3 (1.4–4.0)] and mugwort sensitization with DQB1*0609-DRB1*13 [OR 7.1 (1.9–27.0)] and DQB1*0501-DRB1*01 [OR 2.0 (1.0–4.0)]. Conclusions: Our data suggests that asthma is not associated with DRB1 or DQB1 but rather TNFA or a gene(s) in linkage disequilibrium, while sensitization to specific allergens is associated with particular alleles at the DQ and/or DR loci. A novel association between DQB1*0603-DRB1*13 and birch allergy is identified

• Lie, Benedicte Alexandra; Viken, Marte K; Akselsen, Hanne Elisabeth; Flåm, Siri; Pociot, F & Nerup, J [Show all 10 contributors for this article] (2007). Association analysis in type 1 diabetes of the PRSS16 gene encoding a thymus-specific serine protease. Human Immunology. ISSN 0198-8859. 68, p. 592–598. doi: 10.1016/j.humimm.2007.03.009.
• Thomson, G; Valdes, AM; Noble, JA; Kockum, I; Grote, MN & Najman, J [Show all 52 contributors for this article] (2007). Relative predispositional effects of HLA class II DRB1-DQB1 haplotypes and genotypes on type 1 diabetes: a meta-analysis. Tissue Antigens. ISSN 0001-2815. 70, p. 110–127. doi: 10.1111/j.1399-0039.2007.00867.x.
• Viken, Marte K; Sollid, HD; Joner, Geir; Dahl-Jørgensen, Knut; Rønningen, Kjersti Skjold & Undlien, Dag E [Show all 14 contributors for this article] (2007). Polymorphisms in the cathepsin L2 (CTSL2) gene show association with type 1 diabetes and early-onset myasthenia gravis. Human Immunology. ISSN 0198-8859. 68(9), p. 748–755. doi: 10.1016/j.humimm.2007.05.009.
• Blomhoff, Anne; Olsson, M; Johansson, Stefan; Akselsen, HE; Pociot, F & Nerup, J [Show all 11 contributors for this article] (2006). Linkage disequilibrium and haplotype blocks in the MHC vary in an HLA haplotype specific manner assessed mainly by DRB1*03 and DRB1*04 haplotypes. Genes and Immunity. ISSN 1466-4879. 7, p. 130–140.
• Stene, Lars Christian; Thorsby, Per M; Berg, Jens P; Rønningen, Kjersti Skjold; Undlien, Dag E & Joner, Geir (2006). The relation between size at birth and risk of type 1 diabetes is not influenced by adjustment for the insulin gene (-23HphI) polymorphism or HLA-DQ genotype. Diabetologia. ISSN 0012-186X. 49, p. 2068–2073.
• Bjørnvold, M; Amundsen, SS; Stene, Lars Christian; Joner, Geir; Dahl-Jørgensen, Knut & Njølstad, Pål Rasmus [Show all 15 contributors for this article] (2006). FOXP3 polymorphisms in type 1 diabetes and coeliac disease. Journal of Autoimmunity. ISSN 0896-8411. 27(2), p. 140–144. doi: 10.1016/j.jaut.2006.06.007.
• Payne, F; Smyth, DJ; Pask, R; Cooper, JD; Masters, J & Wang, WY [Show all 21 contributors for this article] (2005). No evidence for association of the TATA-box binding protein glutamine repeat sequence or the flanking chromosome 6q27 region with type 1 diabetes. Biochemical and Biophysical Research Communications - BBRC. ISSN 0006-291X. 331.
• Maier, LM; Smyth, DJ; Vella, A; Payne, F; Cooper, JD & Pask, R [Show all 25 contributors for this article] (2005). Construction and analysis of tag single nucleotide polymorphism maps for six human-mouse orthologous candidate genes in type 1 diabetes. BMC Genetics. ISSN 1471-2156. 18(6).
• Smyth, DJ; Howson, JM; Lowe, C; Walker, NM; Lam, AC & Nutland, S [Show all 19 contributors for this article] (2005). Assessing the validity of the association between the SUMO4 M55V variant and risk of type 1 diabetes. Nature Genetics. ISSN 1061-4036. 37(2), p. 110–111.
• Blomhoff, Anne; Kemp, EH; Gawkrodger, DJ; Weetman, AP; Husebye, ES & Akselsen, Hanne Elisabeth [Show all 8 contributors for this article] (2005). CTLA4 polymorphisms are associated with vitiligo, in patients with concomitant autoimmune diseases. Pigment Cell Research. ISSN 0893-5785. 18.
• Blomhoff, Anne; Kemp, Helen; Gawkrodger, David J.; Weetman, Anthony P.; Husebye, Eystein S.Junior & Akselsen, Hanne E. [Show all 8 contributors for this article] (2005). CTLA4 polymorphisms are associated with vitiligo, in patients with concomitant autoimmune diseases. Pigment Cell Research. ISSN 0893-5785. 18, p. 55–58.
• Gundersen, Lise Bj.; Johansson, Stefan; Ræder, Helge; Undlien, Dag E.; Molven, Anders & Søvik, Oddmund [Show all 9 contributors for this article] (2005). Molekylærgenetisk diagnostikk ved diabetes mellitus. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 125(21), p. 2968–2972.
• Wangensteen, Teresia; Undlien, Dag Erik; Tonstad, Serena & Retterstøl, Lars (2005). Genetiske årsaker til fedme. Tidsskrift for Den norske legeforening. ISSN 0029-2001. p. 3090–3093.
• Bjørkhaug, L.; Johansson, Stefan; Ræder, Helge; Thorsby, Per; Undlien, Dag Erik & Søvik, Oddmund [Show all 9 contributors for this article] (2005). Molekylærgenetisk diagnostikk ved diabetes mellitus. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 125(21), p. 2968–72.

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• Undlien, Dag Erik (2005). Din uNike Arv - genetikk og helse. Aschehoug & Co. ISBN 82-03-23248-5. 237 p.

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• Eike, Morten Christoph; Seljebotn, Svein Tore; Nafstad, Eidi; Håndstad, Tony; Fontenelle, Hugues & Honneffer, David Jacob [Show all 9 contributors for this article] (2016). Ella: decision support and structured data in clinical variant classification.
• Filges, Isabel; Bruder, Elisabeth; Brandal, Kristin; Meier, Stephanie; Undlien, Dag Erik & Waage, Trine Rygvold [Show all 19 contributors for this article] (2016). Erratum to: Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF. Human Mutation. ISSN 1059-7794. 37(7), p. 711–711. doi: 10.1002/humu.22997.
• Eike, Morten Christoph; Skorve, Espen; Håndstad, Tony; Fontenelle, Hugues; Børsting, Jorun & Aanestad, Margunn [Show all 9 contributors for this article] (2014). GenAP workbench: aiding variant classification in clinical diagnostic settings.
• Aanestad, Margunn; Eike, Morten Christoph; Grünfeld, Thomas B. & Undlien, Dag Erik (2014). Building an Infrastructure for Personalized Medicine: connecting the local knowing in practice to global 'circuits of knowledge'.
• Eike, Morten Christoph; Håndstad, Tony; Nafstad, Eidi; Hughes, Timothy; Grünfeld, Thomas & Undlien, Dag Erik (2013). GenAP: automated analysis of genetic HTS data for clinical diagnostic use.
• Brønstad, Ingeborg; Skinningsrud, Beate; Wolff, Anette Susanne Bøe; Bratland, Eirik; Løvås, Kristian & Knappskog, Per [Show all 8 contributors for this article] (2013). Characterisation of the CYP21A2 Gene in Patients with Autoimmune Addison's Disease. Scandinavian Journal of Immunology. ISSN 0300-9475. 77(4), p. 310–310.
• Undlien, Dag Erik (2012). Individuell genomsekvensering. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 3. doi: 10.4045/tidsskr.11.1490.
• Stray-Pedersen, Asbjørg; Sorte, Hanne Sørmo; Rødningen, Olaug Kristin; Lyle, Robert; Gonzaga-Jauregui, C G & Hanson, C I [Show all 16 contributors for this article] (2012). THE UTILITY OF EXOME SEQUENCING IN PRIMARY IMMUNODEFICIENCY DISEASES AND IMMUNODYSREGULATIVE DISORDERS. Journal of Clinical Immunology. ISSN 0271-9142. 32(Supp. 1), p. 184–185.
• Eike, Morten Christoph; Lærum, Hallvard; Hughes, Timothy; Håndstad, Tony; Bremer, Sara & Bergan, Stein [Show all 10 contributors for this article] (2012). GenAP: a platform for clinical genetic analysis of high-throughput sequencing data. Show summary

  The introduction of high-throughput sequencing (HTS) into clinical practice poses great challenges in terms of analytic resources, integration and data security. The project Norwegian clinical genetic Analysis Platform (genAP) was initiated as a response to these challenges, aiming to establish a centralised infrastructure for secure storage and analysis of human sequencing data, with possibilities for disseminated clinical use. GenAP is a collaborative project between Oslo University Hospital and the University of Oslo, with implementation of the system in a high-performance computing environment. As part of this project, we are in the process of establishing pilot HTS pipelines for a set of clinical packages, each with a defined set of targeted genes. The pilots cover diagnostic, prognostic and pharmacogenetic areas, including cardiomyopathies, breast cancer and tacrolimus dosage, respectively. Initially, the pipelines involve data for a limited set of candidate genes, but the system will be scalable to exome and whole-genome data for a large number of patients. To reduce the workload associated with manual analysis, we have sought to achieve a high degree of automation, including variant annotation and quality control, filtering and prioritisation based on public resources, identification of previously classified variants, and standardisation of report information structure for integration with existing medical journal systems. The pilot phase includes comparing the performance of HTS to conventional methods, building a database of genetic variants adapted to our patient populations and real-world testing using collaborating clinicians. The experiences gained will be used to expand to other clinical packages, and the ultimate goal is to introduce the system in the clinic. Complementing the genetic, bioinformatic and clinical issues, the project also addresses legal, ethical and organizational issues encountered when HTS is deployed in large scale clinical decision making. This presentation will demonstrate the overall architecture of our system and present initial experiences with the pilot systems.

• Eike, Morten Christoph; Lærum, Hallvard; Hughes, Timothy; Bremer, Sara; Bergan, Stein & Thomassen, Gard O Sundby [Show all 9 contributors for this article] (2012). A national platform for clinical genetic analysis of high-throughput sequencing data in Norway. Show summary

  The introduction of high-throughput sequencing (HTS) into clinical practice poses great challenges in terms of analytic resources, integration and data security. The project Norwegian clinical genetic Analysis Platform (genAP) was initiated as a response to these challenges, aiming to establish a centralised infrastructure for secure storage and analysis of human sequencing data that allows for disseminated clinical use. GenAP is a collaborative project between Oslo University Hospital and the University of Oslo, with implementation of the system in an established high-performance computing environment. As part of this project, we are in the process of establishing pilot HTS pipelines for a set of clinical packages, each with a defined set of targeted genes. The pilots cover diagnostic, prognostic and pharmacogenetic areas, including cardiomyopathies, breast cancer and tacrolimus dosage, respectively. Initially, the pipelines involve targeted capture and resequencing, but the system will be scalable to exome and genome data for a large number of patients. To reduce the workload associated with manual analysis, we have sought to achieve a high degree of automation, including variant annotation and quality control, filtering based on public resources, identification of previously classified variants, and standardization of report information structure for integration with existing patient journal systems. The pilot phase includes comparing the performance of HTS to conventional methods, building a database of genetic variants adapted to our patient populations and real-world testing using collaborating clinicians. The experiences gained will be used to expand to other clinical packages, and the ultimate goal is to introduce the pipelines for widespread use in the clinic. Complementing the genetic, bioinformatic and clinical issues, the project also addresses legal, ethical and organizational issues encountered when HTS is deployed in large scale clinical decision making. This presentation will demonstrate the overall architecture of our system and present initial experiences with the pilot systems.

• Eike, Morten Christoph; Skinningsrud, Beate; Lie, Benedicte Alexandra; Husebye, Eystein Sverre & Undlien, Dag Erik (2011). No association with RFX, CCR5 or CD226 polymorphisms in Norwegian Addison’s disease patients. Show summary

  Autoimmune Addison’s disease (AAD) is a rare disease characterised by autoimmune destruction of the adrenal cortex. As AAD patients frequently suffer from concomitant autoimmune diseases of other organs, AAD is an interesting model disease for susceptibility factors common to autoimmunity. Accordingly, many of the genes involved in other autoimmune diseases have also been associated with AAD. In this study, we investigated two candidate polymorphisms strongly associated with other autoimmune diseases, a 32 bp deletion (Δ32) in the chemokine C-C motif receptor 5 gene (CCR5) and the rs763361 C>T Gly307Ser SNP in the CD226 gene. In addition, SNPs in the class II MHC transactivator (CIITA) gene has previously been associated with disease in our AAD patients and a number of other autoimmune diseases. We therefore investigated the possibility for presence of susceptibility factors in the genes of the three coregulatory factors of CIITA, the regulatory factor X genes (RFXANK, RFX5 and RFXAP), with a total of eight tagging SNPs. 416 patients with Addison’s disease (321 for rs763361) and 1029 healthy blood donors were genotyped, all of Norwegian origin. A priori, we had ≥80% power to detect an OR above 1.41-1.85 or below 0.70-0.45, depending on minor allele frequency. Two of the tagging SNPs, in RFX5 and RFXAP respectively, were not in Hardy-Weinberg equilibrium in the control population (p<0.05), and were therefore excluded. No significant associations were found between Addison’s disease and either polymorphism, nor with haplotypes of any of the RFX SNPs (p>0.05). However, a tendency for a protective effect was observed for patients homozygous for CCR5Δ32 (recessive OR 0.39, 95% CI 0.11 to 1.31, p=0.11), similar to what has been reported earlier for patients with type 1 diabetes. In conclusion, no significant disease association was found in this study, possibly due to limited power. However, a tendency was observed for the 32 bp deletion polymorphism in the CCR5 gene, which could merit follow-up studies in other AAD cohorts.

• Eike, Morten Christoph; Skinningsrud, Beate; Kvien, Tore Kristian; Stormyr, Alice; Undlien, Dag Erik & Lie, Benedicte Alexandra (2010). Support for involvement of CIITA gene variants in rheumatoid arthritis. Show summary

  The class II major histocompatibility complex (MHC) transactivator (CIITA) is a crucial regulator of MHC class II gene expression. Due to the established role of MHC class II in autoimmunity, CIITA is therefore an excellent candidate for involvement in autoimmune diseases. Accordingly, the rs3087456 A>G promoter SNP in this gene has been reported associated with rheumatoid arthritis (RA) and the intronic rs8048002 T>C SNP with autoimmune Addison’s disease (AAD). In this study, we genotyped 819 Norwegian RA patients and 2152 controls for both of these SNPs. Results: The rs3087456 GG genotype was significantly associated with RA in a recessive model, both in our material (OR 1.50 [95% CI 1.10-2.05], P=0.0093) and in an updated meta-analysis of 15 cohorts, totalling 13154 RA patients and 16351 controls (OR 1.15 [95% CI 1.01-1.31], P=0.031). However, no significant association was found at the allele level (P>0.05). Moreover, the recessive association appeared to be restricted to Scandinavian cohorts (P=0.0011 vs. 0.24 in other studies combined). The rs8048002*C allele was suggestively associated with RA both at the allele level (OR 1.25 [95% CI 1.00-1.56], P=0.046) and in a dominant model (OR 1.30 [95% CI 1.03-1.63], P=0.026) in our material. Linkage disequilibrium (LD) between the rs3087456 and rs8048002 SNPs was estimated to D´=0.98 and r2=0.21. Haplotype analysis revealed that rs8048002*C was virtually always carried together with rs3087456*G on a susceptible haplotype (P=0.050), while the latter allele also occurred on non-risk haplotypes. Together with results of regression analyses, this indicates that the RA association of rs3087456 can be explained by LD with rs8048002. CIITA is the only known gene in the LD block harboring rs8048002 in European HapMap populations. Moreover, both rs3087456 and rs8048002 were in low LD with the rs6489169 SNP in the neighbouring C-type lectin domain family 16 member A (CLEC16A) gene previously associated with RA in our material (D’<0.12, r2<0.002), indicating that the CIITA associations were independent of this effect. Conclusion: Our results provide support for the involvement of CIITA gene variants in RA, but suggest that variants other than the rs3087456 promoter SNP are involved in disease susceptibility. This provides a possible explanation for the diverging results for the rs3087456 SNP in previous studies of RA patients, and warrants follow-up studies that aim to genotype a spectre of SNPs tagging the CIITA harboring LD block.

• Selmer, Kaja Kristine; Lund, C; Brandal, Kristin; Undlien, Dag Erik & Brodtkorb, E (2009). SCN1A MUTATION SCREENING IN ADULT PATIENTS WITH LENNOX-GASTAUT SYNDROME FEATURES. Epilepsia. ISSN 0013-9580. 50, p. 301–301.
• Selmer, Kaja Kristine; Egeland, Thore; Solaas, Marit Hornberg; Nakken, Karl Otto; Kjeldsen, Marianne J. & Friis, Mogens L. [Show all 9 contributors for this article] (2008). Genetic screening of Scandinavian families with febrile seizures and epilepsy or GEFS+. Acta Neurologica Scandinavica. ISSN 0001-6314. 117(4), p. 289–292. doi: 10.1111/j.1600-0404.2007.00941.x. Show summary

  Mutations in the three genes SCN1A, SCN1B and GABRG2, all encoding subunits of ion channels, have been known to cause generalized epilepsy with febrile seizures plus (GEFS+) in families of different origin. Objective -  To study the occurrence of mutations in these genes in families with GEFS+ or a GEFS+ resembling phenotype of Scandinavian origin. Material and methods -  We performed linkage analysis in 19 Scandinavian families with a history of febrile seizures (FS) and epilepsy or GEFS+. Where linkage could not be excluded, the genes of interest were sequenced. Results -  We identified only one mutation in SCN1A, which seems to be a rare variant with no functional consequence. Conclusion -  This suggests that mutations in these three genes are not a prevalent cause of familial cases of FS and epilepsy or GEFS+ in Scandinavia.

• Stene, Lars Christian; Rønningen, Kjersti Skjold; Ronningen, K. S.; Bjørnvold, M; Bjørnvold, Marit & Undlien, DE [Show all 8 contributors for this article] (2008). Can HLA-DQ, PTPN22- and CTLA4 polymorphisms explain the putative association between childhood atopic dermatitis and lower subsequent risk of type 1 diabetes? Diabetologia. ISSN 0012-186X. 51, p. S116–S117. doi: 10.1007/s00125-008-1117-6.
• Skrivarhaug, Torild; Bjørnvold, Marit; Undlien, Dag Erik; Njølstad, Pål Rasmus & Joner, Geir (2008). Classification of childhood-onset diabetes in Norway - The Norwegian childhood diabetes registry. Diabetologia. ISSN 0012-186X. 51, p. S154–S154. doi: 10.1007/s00125-008-1117-6.
• Selmer, Kaja Kristine; Egeland, T; Solaas, Marit Hornberg; Nakken, KO; Kjeldsen, MJ & Friis, ML [Show all 9 contributors for this article] (2008). SCN1A variant in a Scandinavian GEFS+ family: a wolf in sheep's clothing? Comment. Acta Neurologica Scandinavica. ISSN 0001-6314. 118, p. 346–346. doi: 10.1111/j.1600-0404.2008.01061.x.
• Dahlen, H; Viken, MK; Tolosa, E; Melms, A; Undlien, Dag Erik & Thorsby, E [Show all 7 contributors for this article] (2006). Association of the Cathepsin V gene with type 1 diabetes and myasthenia gravis. Tissue Antigens. ISSN 0001-2815. 67, p. 522–522.
• Eike, Morten Christoph; Undlien, Dag Erik; Dahl-Jorgensen, K; Ronningen, KS; Joner, G & Thorsby, E [Show all 7 contributors for this article] (2006). A screen of putative autoimmune risk variants in the HLA region identifies two polymorphisms in the TNF cluster associated with type 1 diabetes. Tissue Antigens. ISSN 0001-2815. 67, p. 525–526.
• Blomhoff, Anne; Viken, Marte K; Akselsen, HE; Gervin, K; Thorsby, E & Undlien, Dag Erik [Show all 7 contributors for this article] (2006). Searching for type 1 diabetes susceptibility genes in the extended HLA class I region. Tissue Antigens. ISSN 0001-2815. 67, p. 445–445.
• Eike, Morten Christoph; Undlien, Dag Erik; Dahl-Jørgensen, Knut; Rønningen, Kjersti Skjold; Joner, Geir & Thorsby, Erik [Show all 7 contributors for this article] (2006). Type 1 diabetes is associated with two polymorphisms in the TNF cluster of the HLA complex independently of DQ-DR genes.
• Eike, Morten Christoph; Joner, Geir; Dahl-Jørgensen, Knut; Rønningen, Kjersti Skjold; Undlien, Dag Erik & Thorsby, Erik [Show all 7 contributors for this article] (2005). A functional NF-kappaB1 promoter polymorphism and type 1 diabetes in Norwegian trio families.
• Vella, A; Smyth, D; Cooper, JD; Tuomilehto-Wolf, E; Tuomilehto, J & Undlien, Dag Erik [Show all 14 contributors for this article] (2004). Convincing statistical support for association of the Arg620Trp polymorphism in PTPN22 locus with Type 1 diabetes. Diabetologia. ISSN 0012-186X. 47, p. A133–A133.
• Krøkje, Åse; Brandal, Kristin; Selmer, Kaja Kristine & Undlien, Dag Erik (2012). Strømme syndrom - Jakten på et gen. Norges teknisk naturvitenskapelige universitet.

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