For more information please visit my English website.
Emneord:
biostatistikk,
kreft,
risiko prediksjon,
integrerende genomikk,
genetikk,
epidemiologi
Publikasjoner
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Grindedal, Eli Marie; Zucknick, Manuela; Stormorken, Astrid T.; Rønne, Elin; Tandstad, Nora Martinussen & Isaacs, William B.
[Vis alle 8 forfattere av denne artikkelen]
(2024).
Outcomes of 10 years of PSA screening for prostate cancer in Norwegian men with Lynch syndrome.
The Prostate.
ISSN 0270-4137.
s. 1–9.
doi:
10.1002/pros.24711.
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Hsieh, Ping-Han; Lopes-Ramos, Camila Miranda; Zucknick, Manuela; Sandve, Geir Kjetil Ferkingstad; Glass, Kimberly & Kuijjer, Marieke
(2023).
Adjustment of spurious correlations in co-expression measurements from RNA-Sequencing data.
Bioinformatics.
ISSN 1367-4803.
39(10).
doi:
10.1093/bioinformatics/btad610.
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Mørk, Marianne; Hoksrud, Aasne Fenne; Søberg, Helene L.; Zucknick, Manuela; Heide, Marte & Groven, Karen Synne
[Vis alle 7 forfattere av denne artikkelen]
(2022).
“Psychometric properties of the Norwegian foot function index revised short form”.
BMC Musculoskeletal Disorders.
ISSN 1471-2474.
23(1),
s. 1–10.
doi:
10.1186/s12891-022-05374-x.
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Background
Foot disorders affect up to one quarter of the adult population. Plantar fasciopathy is a common cause of foot pain associated with decreased activity level and quality of life. Patient-reported outcome measures are important in assessing the burden of a condition as well as in research on the effects of interventions. The Foot Function Index revised short form (FFI-RS) is a region specific questionnaire frequently used in research. This study aimed to cross-culturally adapt the FFI-RS into Norwegian and to test its psychometric properties.
Methods
The FFI-RS was translated into Norwegian (FFI-RSN) following international guidelines. 139 patients with foot disorders (88% with plantar fasciopathy) were included at baseline to measure internal consistency, explorative factor analysis, construct validity and floor and ceiling effects. 54 patients were included after 1 week for test-retest reliability and smallest detectable change analyses. 100 patients were included for responsiveness and minimal important change at 3 months.
Results
Cronbach’s alpha for internal consistency was 0.97 and factor analysis supported the use of the total score of the FFI-RSN. Two out of three predefined hypotheses were confirmed by assessing the construct validity with Spearman’s correlation coefficient. Quadratic weighted Kappa for test-retest reliability showed 0.91 (95% CI 0.86–0.96) and the smallest detectable change was 6.5%. The minimal important change was 8.4% and the area under the receiver operating characteristic curve for responsiveness was 0.78 (95% CI 0.69–0.87). We found no floor or ceiling effects on the total score of the FFI-RSN.
Conclusions
The present study showed excellent reliability of the FFI-RSN and supports the use of the total score of the questionnaire. Furthermore, we found the FFI-RSN to have acceptable responsiveness in relation to change in general health. Smallest detectable change, minimal important change and responsiveness were presented as novel results of the total score of the FFI-RS. FFI-RSN can be used to evaluate global foot health in clinical or research settings with Norwegian patients suffering from plantar fasciopathy.
Trial registration
Clinical Trials.gov NCT04207164. Initial release 01.11.19.
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Kristiansen, Oddrun; Roland, Marie Cecilie; Zucknick, Manuela; Reine, Trine M.; Kolset, Svein Olav & Henriksen, Tore
[Vis alle 8 forfattere av denne artikkelen]
(2022).
Maternal body mass index and placental weight: a role for fetal insulin, maternal insulin and leptin.
Journal of Endocrinological Investigation.
ISSN 0391-4097.
45,
s. 2105–2121.
doi:
10.1007/s40618-022-01842-2.
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Purpose
Placental weight (PW) has been found to mediate the main effect of maternal BMI on fetal size. Still, the BMI–PW association is poorly understood. Therefore, we aimed to explore potential explanatory variables, including gestational weight gain (GWG), early- and late-pregnancy circulating levels of maternal glucose, insulin, leptin, adiponectin, triglycerides, LDL-C, and HDL-C, and fetal insulin.
Methods
We included two studies of pregnant women from Oslo University Hospital, Norway: the prospective STORK (n = 263) and the cross-sectional 4-vessel method study (4-vessel; n = 165). We used multiple linear regression for data analyses. A non-linear BMI-PW association was observed, which leveled off from BMI25. Therefore, BMI <25 and ≥25 were analyzed separately (n = 170/122 and 93/43 for STORK/4-vessel). Confounding variables included maternal age, parity, and gestational age.
Results
PW increased significantly per kg m−2 only among BMI <25 (univariate model’s std.β[p] = 0.233 [0.002] vs. 0.074[0.48]/0.296[0.001] vs. −0.030[0.85] for BMI <25 vs. ≥25 in STORK/4-vessel). Maternal early- but not late-pregnancy insulin and term fetal insulin were associated with PW. The estimated effect of early pregnancy insulin was similar between the BMI groups but statistically significant only among BMI <25 (std.β[p] = 0.182[0.016] vs. 0.203[0.07] for BMI <25 vs. ≥25). Late pregnancy leptin was inversely associated with PW with a 1.3/1.7-fold greater effect among BMI ≥25 than BMI <25 in the STORK/4-vessel.
Conclusions
The BMI–PW association was non-linear: an association was observed for BMI <25 but not for BMI ≥25. Leptin may be involved in the non-linear association through a placental–adipose tissue interplay. Maternal early pregnancy insulin and fetal insulin at term were associated with PW.
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Degnes, Maren-Helene Langeland; Westerberg, Ane Cecilie; Zucknick, Manuela; Powell, Theresa L.; Jansson, Thomas & Henriksen, Tore
[Vis alle 8 forfattere av denne artikkelen]
(2022).
Placenta-derived proteins across gestation in healthy pregnancies—a novel approach to assess placental function?
BMC Medicine.
ISSN 1741-7015.
20.
doi:
10.1186/s12916-022-02415-z.
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ackground
Placenta-derived proteins in the systemic maternal circulation are suggested as potential biomarkers for placental function. However, the identity and longitudinal patterns of such proteins are largely unknown due to the inaccessibility of the human placenta and limitations in assay technologies. We aimed to identify proteins derived from and taken up by the placenta in the maternal circulation. Furthermore, we aimed to describe the longitudinal patterns across gestation of placenta-derived proteins as well as identify placenta-derived proteins that can serve as reference curves for placental function.
Methods
We analyzed proteins in plasma samples collected in two cohorts using the Somalogic 5000-plex platform. Antecubital vein samples were collected at three time points (gestational weeks 14–16, 22–24, and 30–32) across gestation in 70 healthy pregnancies in the longitudinal STORK cohort. In the cross sectional 4-vessel cohort, blood samples were collected simultaneously from the maternal antecubital vein (AV), radial artery (RA), and uterine vein (UV) during cesarean section in 75 healthy pregnancies. Placenta-derived proteins and proteins taken up by the placenta were identified using venoarterial differences (UV-RA). Placenta-derived proteins were defined as placenta-specific by comparison to the venoarterial difference in the antecubital vein-radial artery (AV-RA). These proteins were described longitudinally based on the STORK cohort samples using a linear mixed effects model per protein. Using a machine learning algorithm, we identified placenta-derived proteins that could predict gestational age, meaning that they closely tracked gestation, and were potential read-outs of placental function.
Results
Among the nearly 5000 measured proteins, we identified 256 placenta-derived proteins and 101 proteins taken up by the placenta (FDR < 0.05). Among the 256 placenta-derived proteins released to maternal circulation, 101 proteins were defined as placenta-specific. These proteins formed two clusters with distinct developmental patterns across gestation. We identified five placenta-derived proteins that closely tracked gestational age when measured in the systemic maternal circulation, termed a “placental proteomic clock.”
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Zhao, Zhi; Wang, Shixiong; Zucknick, Manuela & Aittokallio, Tero Antero
(2022).
Tissue-specific identification of multi-omics features for pan-cancer drug response prediction.
iScience.
ISSN 2589-0042.
25(8).
doi:
10.1016/j.isci.2022.104767.
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Zhao, Zhi; Banterle, Marco; Bottolo, Leonardo; Richardson, Sylvia; Lewin, Alexandra & Zucknick, Manuela
(2021).
BayesSUR: An R package for high-dimensional multivariate Bayesian variable and covariance selection in linear regression.
Journal of Statistical Software.
ISSN 1548-7660.
100(11),
s. 1–32.
doi:
10.18637/jss.v100.i11.
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Klevberg, Gunvor Lilleholt; Jahnsen, Reidun Birgitta; Elkjær, Sonja & Zucknick, Manuela
(2021).
Hand use development in children with unilateral cerebral palsy.
Developmental Medicine & Child Neurology.
ISSN 0012-1622.
63(12),
s. 1462–1468.
doi:
10.1111/dmcn.14957.
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Schellhorn, Till; Zucknick, Manuela; Askim, Torunn; Munthe-Kaas, Ragnhild; Ihle-Hansen, Hege & Seljeseth, Yngve Müller
[Vis alle 13 forfattere av denne artikkelen]
(2021).
Pre-stroke cognitive impairment is associated with vascular imaging pathology: a prospective observational study.
BMC Geriatrics.
ISSN 1471-2318.
21:362,
s. 1–10.
doi:
10.1186/s12877-021-02327-2.
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Background: Chronic brain pathology and pre-stroke cognitive impairment (PCI) is predictive of post-stroke
dementia. The aim of the current study was to measure pre-stroke neurodegenerative and vascular disease burden
found on brain MRI and to assess the association between pre-stroke imaging pathology and PCI, whilst also
looking for potential sex differences.
Methods: This prospective brain MRI cohort is part of the multicentre Norwegian cognitive impairment after stroke
(Nor-COAST) study. Patients hospitalized with acute ischemic or hemorrhagic stroke were included from five
participating stroke units. Visual rating scales were used to categorize baseline MRIs (N = 410) as vascular,
neurodegenerative, mixed, or normal, based on the presence of pathological imaging findings. Pre-stroke cognition
was assessed by interviews of patients or caregivers using the Global Deterioration Scale (GDS). Stroke severity was
assessed with the National Institute of Health Stroke Scale (NIHSS). Univariate and multiple logistic regression
analyses were performed to investigate the association between imaging markers, PCI, and sex.
Results: Patients’ (N = 410) mean (SD) age was 73.6 (±11) years; 182 (44%) participants were female, the mean (SD)
NIHSS at admittance was 4.1 (±5). In 68% of the participants, at least one pathological imaging marker was found. Medial temporal lobe atrophy (MTA) was present in 30% of patients, white matter hyperintensities (WMH) in 38% of patients and lacunes in 35% of patients. PCI was found in 30% of the patients. PCI was associated with
cerebrovascular pathology (OR 2.5; CI = 1.4 to 4.5, p = 0.001) and mixed pathology (OR 3.4; CI = 1.9 to 6.1, p = 0.001) but was not associated with neurodegeneration (OR 1.0; CI = 0.5 to 2.2; p = 0.973). Pathological MRI markers,
including MTA and lacunes, were more prevalent among men, as was a history of clinical stroke prior to the index
stroke. The OR of PCI for women was not significantly increased (OR 1.2; CI = 0.8 to 1.9; p = 0.3).
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Heinicke, Fatima; Zhong, Xiangfu; Flåm, Siri Tennebø; Breidenbach, Johannes; Leithaug, Magnus & Mæhlen, Marthe Thoresen
[Vis alle 14 forfattere av denne artikkelen]
(2021).
MicroRNA Expression Differences in Blood-Derived CD19+ B Cells of Methotrexate Treated Rheumatoid Arthritis Patients.
Frontiers in Immunology.
ISSN 1664-3224.
12.
doi:
10.3389/fimmu.2021.663736.
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Rheumatoid arthritis (RA) is a complex disease with a wide range of underlying susceptibility factors. Recently, dysregulation of microRNAs (miRNAs) in RA have been reported in several immune cell types from blood. However, B cells have not been studied in detail yet. Given the autoimmune nature of RA with the presence of autoantibodies, CD19+ B cells are a key cell type in RA pathogenesis and alterations in CD19+ B cell subpopulations have been observed in patient blood. Therefore, we aimed to reveal the global miRNA repertoire and to analyze miRNA expression profile differences in homogenous RA patient phenotypes in blood-derived CD19+ B cells. Small RNA sequencing was performed on CD19+ B cells of newly diagnosed untreated RA patients (n=10), successfully methotrexate (MTX) treated RA patients in remission (MTX treated RA patients, n=18) and healthy controls (n=9). The majority of miRNAs was detected across all phenotypes. However, significant expression differences between MTX treated RA patients and controls were observed for 27 miRNAs, while no significant differences were seen between the newly diagnosed patients and controls. Several of the differentially expressed miRNAs were previously found to be dysregulated in RA including miR-223-3p, miR-486-3p and miR-23a-3p. MiRNA target enrichment analysis, using the differentially expressed miRNAs and miRNA-target interactions from miRTarBase as input, revealed enriched target genes known to play important roles in B cell activation, differentiation and B cell receptor signaling, such as STAT3, PRDM1 and PTEN. Interestingly, many of those genes showed a high degree of correlated expression in CD19+ B cells in contrast to other immune cell types. Our results suggest important regulatory functions of miRNAs in blood-derived CD19+ B cells of MTX treated RA patients and motivate for future studies investigating the interactive mechanisms between miRNA and gene targets, as well as the possible predictive power of miRNAs for RA treatment response.
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Heinicke, Fatima; Zhong, Xiangfu; Zucknick, Karola Manuela; Breidenbach, Johannes; Sundaram, Arvind Yegambaram Meenakshi & Flåm, Siri Tennebø
[Vis alle 11 forfattere av denne artikkelen]
(2020).
An extension to: Systematic assessment of commercially available low-input miRNA library preparation kits.
RNA Biology.
ISSN 1547-6286.
17(9),
s. 1284–1292.
doi:
10.1080/15476286.2020.1761081.
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High-throughput sequencing has emerged as the favoured method to study microRNA (miRNA) expression, but biases introduced during library preparation have been reported. We recently compared the performance (sensitivity, reliability, titration response and differential expression) of six commercially-available kits on synthetic miRNAs and human RNA, where library preparation was performed by the vendors. We hereby supplement this study with data from two further commonly used kits (NEBNext, NEXTflex) whose manufacturers initially declined to participate. NEXTflex demonstrated the highest sensitivity, which may reflect its use of partially-randomized adapter sequences, but overall performance was lower than the QIAseq and TailorMix kits. NEBNext showed intermediate performance. We reaffirm that biases are kit specific, complicating the comparison of miRNA datasets generated using different kits.
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Bragstad, Line Kildal; Hjelle, Ellen Gabrielsen ; Zucknick, Manuela; Sveen, Unni; Thommessen, Bente & Bronken, Berit Arnesveen
[Vis alle 13 forfattere av denne artikkelen]
(2020).
The effects of a dialogue-based intervention to promote psychosocial well-being after stroke: a randomized controlled trial.
Clinical Rehabilitation.
ISSN 0269-2155.
34(8),
s. 1056–1071.
doi:
10.1177/0269215520929737.
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Objective:
To evaluate the effect of a dialogue-based intervention targeting psychosocial well-being at 12 months post-stroke.
Design:
Multicenter, prospective, randomized, assessor-blinded, controlled trial with two parallel groups.
Setting:
Community.
Subjects:
Three-hundred and twenty-two adults (⩾18 years) with stroke within the last four weeks were randomly allocated into intervention group (n = 166) or control group (n = 156).
Interventions:
The intervention group received a dialogue-based intervention to promote psychosocial well-being, comprising eight individual 1–1½ hour sessions delivered during the first six months post-stroke.
Main measures:
The primary outcome measure was the General Health Questionnaire-28 (GHQ-28). Secondary outcome measures included the Stroke and Aphasia Quality of Life Scale-39g, the Sense of Coherence scale, and the Yale Brown single-item questionnaire.
Results:
The mean (SD) age of the participants was 66.8 (12.1) years in the intervention group and 65.7 (13.3) years in the control group. At 12 months post-stroke, the mean (SE) GHQ-28 score was 20.6 (0.84) in the intervention group and 19.9 (0.85) in the control group. There were no between-group differences in psychosocial well-being at 12 months post-stroke (mean difference: −0.74, 95% confidence interval (CI): −3.08, 1.60). The secondary outcomes showed no statistically significant between-group difference in health-related quality of life, sense of coherence, or depression at 12 months.
Conclusion:
The results of this trial did not demonstrate lower levels of emotional distress and anxiety or higher levels of health-related quality of life in the intervention group (dialogue-based intervention) as compared to the control group (usual care) at 12 months post-stroke.
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Pietka, Wojciech; Sundnes, Olav; Hammarström, Clara Louise; Zucknick, Manuela; Khnykin, Denis & Haraldsen, Guttorm
(2020).
Lack of interleukin-33 and its receptor does not prevent calcipotriol-induced atopic dermatitis-like inflammation in mice.
Scientific Reports.
ISSN 2045-2322.
10:6451,
s. 1–8.
doi:
10.1038/s41598-020-63410-z.
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Joshi, Sarita; De Angelis, Paula; Zucknick, Manuela; Schjølberg, Aasa Rambæk; Andersen, Solveig Norheim & Clausen, Ole Petter Fraas
(2020).
Role of the Wnt signaling pathway in keratoacanthoma.
Cancer Reports.
ISSN 2573-8348.
3(2),
s. 1–11.
doi:
10.1002/cnr2.1219.
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Volchenkov, Roman; Matthews, Jason; Zucknick, Manuela & Skålhegg, Bjørn Steen
(2019).
Shared epitope is associated with the reactivity of Th17 cells to cigarette smoke extract regardless of smoking history.
Cellular & Molecular Immunology.
ISSN 1672-7681.
16(7),
s. 674–675.
doi:
10.1038/s41423-019-0230-4.
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Heinicke, Fatima; Zhong, Xiangfu; Zucknick, Manuela; Breidenbach, Johannes; Sundaram, Arvind Yegambaram Meenakshi & Flåm, Siri Tennebø
[Vis alle 21 forfattere av denne artikkelen]
(2019).
Systematic assessment of commercially available low-input miRNA library preparation kits.
RNA Biology.
ISSN 1547-6286.
17(1),
s. 75–86.
doi:
10.1080/15476286.2019.1667741.
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High-throughput sequencing is increasingly favoured to assay the presence and abundance of microRNAs (miRNAs) in biological samples, even from low RNA amounts, and a number of commercial vendors now offer kits that allow miRNA sequencing from sub-nanogram (ng) inputs. Although biases introduced during library preparation have been documented, the relative performance of current reagent kits has not been investigated in detail. Here, six commercial kits capable of handling <100ng total RNA input were used for library preparation, performed by kit manufactures, on synthetic miRNAs of known quantities and human total RNA samples. We compared the performance of miRNA detection sensitivity, reliability, titration response and the ability to detect differentially expressed miRNAs. In addition, we assessed the use of unique molecular identifiers (UMI) sequence tags in one kit. We observed differences in detection sensitivity and ability to identify differentially expressed miRNAs between the kits, but none were able to detect the full repertoire of synthetic miRNAs. The reliability within the replicates of all kits was good, while larger differences were observed between the kits, although none could accurately quantify the relative levels of the majority of miRNAs. UMI tags, at least within the input ranges tested, offered little advantage to improve data utility. In conclusion, biases in miRNA abundance are heavily influenced by the kit used for library preparation, suggesting that comparisons of datasets prepared by different procedures should be made with caution. This article is intended to assist researchers select the most appropriate kit for their experimental conditions.
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Hjelle, Ellen Gabrielsen ; Bragstad, Line Kildal; Kirkevold, Marit; Zucknick, Manuela; Bronken, Berit Arnesveen & Martinsen, Randi
[Vis alle 11 forfattere av denne artikkelen]
(2019).
Effect of a dialogue-based intervention on psychosocial well-being 6 months after stroke in Norway: A randomized controlled trial
.
Journal of Rehabilitation Medicine.
ISSN 1650-1977.
51(8),
s. 557–565.
doi:
10.2340/16501977-2585.
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Abstract
Objective: To evaluate the effect of a dialogue-based intervention on psychosocial well-being 6 months after stroke.
Design: Multicentre, prospective, randomized controlled trial.
Subjects: Adults (aged ≥ 18 years) who had their first or recurrent stroke within the last month, were medically stable, had sufficient cognitive functioning to participate and understood and spoke Norwegian.
Methods: A total of 322 participants were randomly assigned to the intervention (n = 166) or control (n = 156) group. Participants in the intervention group received up to 8 individual sessions aimed at supporting the coping and life skills of stroke survivors in addition to usual care. The primary outcome was the proportion of participants with normal mood measured by the General Health Questionnaire-28 (GHQ-28). The secondary outcomes included health-related quality of life (Stroke and Aphasia Quality of Life Scale; SAQOL-39g), depression (Yale-Brown single-item questionnaire; Yale) and sense of coherence (SOC-13).
Results: After controlling for the baseline values, no significant benefit was found in the intervention group over the control group (odds ratio (OR): 0.898: 95% confidence interval (95% CI): 0.54-1.50, p = 0.680) 6 months post-stroke.
Conclusion: Psychosocial well-being improved during the first 6 months after stroke in both arms of the trial, but no statistically significant benefit of the dialogue-based intervention was found compared with usual care.
Lay Abstract
The aim of this study was to evaluate the effect of a dialogue-based intervention on psychosocial well-being 6 months after stroke. A total of 322 participants were assigned to an intervention (= 166) or control (= 156) group. Participants in the intervention group received up to 8 individual sessions aimed at supporting the coping and life skills of stroke survivors in addition to usual care. Psychosocial well-being improved during the first 6 months after the stroke in both arms of the trial. However, no benefit of the dialogue-based intervention was found compared with usual care.
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Hjelle, Ellen Gabrielsen; Bragstad, Line Kildal; Zucknick, Manuela; Kirkevold, Marit; Thommessen, Bente & Sveen, Unni
(2019).
The General Health Questionnaire-28 (GHQ-28) as an outcome measurement in a randomized controlled trial in a Norwegian stroke population.
BMC Psychology.
ISSN 2050-7283.
7(18).
doi:
10.1186/s40359-019-0293-0.
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Nguyen, Chinh BKrong; Kumar, Surendra; Zucknick, Manuela; Kristensen, Vessela N.; Gjerstad, Johannes & Nilsen, Hilde Loge
[Vis alle 7 forfattere av denne artikkelen]
(2019).
Associations between clinical symptoms, plasma norepinephrine and deregulated immune gene networks in subgroups of adolescent with Chronic Fatigue Syndrome.
Brain, Behavior, and Immunity.
ISSN 0889-1591.
76,
s. 82–96.
doi:
10.1016/j.bbi.2018.11.008.
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Background
Chronic Fatigue Syndrome (CFS) is one of the most important causes of disability among adolescents while limited knowledge exists on genetic determinants underlying disease pathophysiology.
Methods
We analyzed deregulated immune-gene modules using Pathifier software on whole blood gene expression data (29 CFS patients, 18 controls). Deconvolution of immune cell subtypes based on gene expression profile was performed using CIBERSORT. Supervised consensus clustering on pathway deregulation score (PDS) was used to define CFS subgroups. Associations between PDS and immune, neuroendocrine/autonomic and clinical markers were examined. The impact of plasma norepinephrine level on clinical markers over time was assessed in a larger cohort (91 patients).
Results
A group of 29 immune-gene sets was shown to differ patients from controls and detect subgroups within CFS. Group 1P (high PDS, low norepinephrine, low naïve CD4+ composition) had strong association with levels of serum C-reactive protein and Transforming Growth Factor-beta. Group 2P (low PDS, high norepinephrine, high naïve CD4+ composition) had strong associations with neuroendocrine/autonomic markers. The corresponding plasma norepinephrine level delineated 91 patients into two subgroups with significant differences in fatigue score.
Conclusion
We identified 29 immune-gene sets linked to plasma norepinephrine level that could delineate CFS subgroups. Plasma norepinephrine stratification revealed that lower levels of norepinephrine were associated with higher fatigue. Our data suggests potential involvement of neuro-immune dysregulation and genetic stratification in CFS.
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Øystese, Kristin Astrid Berland; Hisanawi, Sheren; Zucknick, Manuela; Bollerslev, Jens & Ringstad, Geir
(2019).
Are volume measurements of non-functioning pituitary adenomas reliable?
Endocrine.
ISSN 1355-008X.
63(1),
s. 171–176.
doi:
10.1007/s12020-018-1752-8.
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Opheim, Gun Lisbeth; Zucknick, Manuela; Henriksen, Tore & Haugen, Guttorm
(2018).
A maternal meal affects clinical Doppler parameters in the fetal middle cerebral artery.
PLOS ONE.
ISSN 1932-6203.
13(12).
doi:
10.1371/journal.pone.0209990.
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Øystese, Kristin Astrid Berland; Berg, Jens Petter; Normann, Kjersti Ringvoll; Zucknick, Manuela; Casar-Borota, Olivera & Bollerslev, Jens
(2018).
The role of E and N-cadherin in the postoperative course of gonadotroph pituitary tumours.
Endocrine.
ISSN 1355-008X.
62(2),
s. 351–360.
doi:
10.1007/s12020-018-1679-0.
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LeBlanc, Marissa; Nustad, Haakon Egdetveit; Zucknick, Manuela & Page, Christian
(2018).
Quality control for Illumina 450K methylation data in the absence of iDat files using correlation structure in pedigrees and repeated measures.
BMC Genetics.
ISSN 1471-2156.
19.
doi:
10.1186/s12863-018-0636-5.
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Nustad, Haakon Egdetveit; Page, Christian; Reiner, Andrew Henry; Zucknick, Manuela & LeBlanc, Marissa
(2018).
A Bayesian mixed modeling approach for estimating heritability.
BMC Proceedings.
ISSN 1753-6561.
12,
s. 117–122.
doi:
10.1186/s12919-018-0131-z.
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Background
A Bayesian mixed model approach using integrated nested Laplace approximations (INLA) allows us to construct flexible models that can account for pedigree structure. Using these models, we estimate genome-wide patterns of DNA methylation heritability (h2), which are currently not well understood, as well as h2 of blood lipid measurements.
Methods
We included individuals from the Genetics of Lipid Lowering Drugs and Diet Network (GOLDN) study with Infinium 450 K cytosine-phosphate-guanine (CpG) methylation and blood lipid data pre- and posttreatment with fenofibrate in families with up to three-generation pedigrees. For genome-wide patterns, we constructed 1 model per CpG with methylation as the response variable, with a random effect to model kinship, and age and gender as fixed effects.
Results
In total, 425,791 CpG sites pre-, but only 199,027 CpG sites posttreatment were found to have nonzero heritability. Across these CpG sites, the distributions of h2 estimates are similar in pre- and posttreatment (pre: median = 0.31, interquartile range [IQR] = 0.16; post: median = 0.34, IQR = 0.20). Blood lipid h2 estimates were similar pre- and posttreatment with overlapping 95% credibility intervals. Heritability was nonzero for treatment effect, that is, the difference between pre- and posttreatment blood lipids. Estimates for triglycerides h2 are 0.48 (pre), 0.42 (post), and 0.21 (difference); likewise for high-density lipoprotein cholesterol h2 the estimates are 0.61, 0.68, and 0.10.
Conclusions
We show that with INLA, a fully Bayesian approach to estimate DNA methylation h2 is possible on a genome-wide scale. This provides uncertainty assessment of the estimates, and allows us to perform model selection via deviance information criterion (DIC) to identify CpGs with strong evidence for nonzero heritability.
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Ickstadt, Katja; Schäfer, Martin & Zucknick, Manuela
(2018).
Toward Integrative Bayesian Analysis in Molecular Biology.
Annual Review of Statistics and Its Application.
ISSN 2326-8298.
5,
s. 141–167.
doi:
10.1146/annurev-statistics-031017-100438.
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Tanbo, Tom Gunnar; Zucknick, Manuela & Eskild, Anne
(2018).
Maternal concentrations of human chorionic gonadotrophin in very early IVF pregnancies and duration of pregnancy: a follow-up study.
Reproductive Biomedicine Online.
ISSN 1472-6483.
37(2),
s. 208–215.
doi:
10.1016/j.rbmo.2018.04.048.
Fulltekst i vitenarkiv
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Wolf, Christine; Garding, Angela; Filarsky, Katharina; Bahlo, Jasmin; Robrecht, Sandra & Becker, Natalia
[Vis alle 20 forfattere av denne artikkelen]
(2018).
NFATC1 activation by DNA hypomethylation in chronic lymphocytic leukemia correlates with clinical staging and can be inhibited by ibrutinib.
International Journal of Cancer.
ISSN 0020-7136.
142(2),
s. 322–333.
doi:
10.1002/ijc.31057.
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Øystese, Kristin Astrid Berland; Casar-Borota, Olivera; Normann, Kjersti Ringvoll; Zucknick, Manuela; Berg, Jens Petter & Bollerslev, Jens
(2017).
Estrogen Receptor α, a Sex-Dependent Predictor of Aggressiveness in Nonfunctioning Pituitary Adenomas: SSTR and Sex Hormone Receptor Distribution in NFPA.
Journal of Clinical Endocrinology and Metabolism (JCEM).
ISSN 0021-972X.
102(9),
s. 3581–3590.
doi:
10.1210/jc.2017-00792.
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Øystese, Kristin Astrid Berland; Zucknick, Manuela; Casar-Borota, Olivera; Ringstad, Geir & Bollerslev, Jens
(2017).
Early postoperative growth in non-functioning pituitary adenomas; A tool to tailor safe follow-up.
Endocrine.
ISSN 1355-008X.
57(1),
s. 35–45.
doi:
10.1007/s12020-017-1314-5.
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Joshi, Sarita; Schjølberg, Aasa Rambæk; Ekstrøm, Per Olaf; De Angelis, Paula; Zucknick, Manuela & Andersen, Solveig Norheim
[Vis alle 7 forfattere av denne artikkelen]
(2016).
Tp53/p53 status in keratoacanthomas.
Journal of cutaneous pathology.
ISSN 0303-6987.
43(7),
s. 571–578.
doi:
10.1111/cup.12713.
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Mock, Andreas; Geisenberger, Christoph; Orlik, Christian; Warta, Rolf; Schwager, Christian & Jungk, Christine
[Vis alle 25 forfattere av denne artikkelen]
(2016).
LOC283731 promoter hypermethylation prognosticates survival after radiochemotherapy in IDH1 wild-type glioblastoma patients.
International Journal of Cancer.
ISSN 0020-7136.
139(2),
s. 424–432.
doi:
10.1002/ijc.30069.
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Kap, Elisabeth J; Seibold, Petra; Scherer, Dominique; Habermann, Nina; Balavarca, Yesilda & Jansen, Lina
[Vis alle 15 forfattere av denne artikkelen]
(2016).
SNPs in transporter and metabolizing genes as predictive markers for oxaliplatin treatment in colorectal cancer patients.
International Journal of Cancer.
ISSN 0020-7136.
138(12),
s. 2993–3001.
doi:
10.1002/ijc.30026.
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Yang, Rongxi; Pfütze, Katrin; Zucknick, Manuela; Sutter, Christian; Wappenschmidt, Barbara & Marme, Frederik
[Vis alle 20 forfattere av denne artikkelen]
(2015).
DNA methylation array analyses identified breast cancer‐associated HYAL2 methylation in peripheral blood.
International Journal of Cancer.
ISSN 0020-7136.
136(8),
s. 1845–1855.
doi:
10.1002/ijc.29205.
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Chen, Hongda; Zucknick, Manuela; Werner, Simone; Knebel, Phillip & Brenner, Hermann
(2015).
Head-to-head comparison and evaluation of 92 plasma protein biomarkers for early detection of colorectal cancer in a true screening setting.
Clinical Cancer Research.
ISSN 1078-0432.
21(14),
s. 3318–3326.
doi:
10.1158/1078-0432.CCR-14-3051.
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Zucknick, Manuela; Saadati, Maral & Benner, Axel
(2015).
Nonidentical twins: Comparison of frequentist and Bayesian lasso for Cox models.
Biometrical Journal.
ISSN 0323-3847.
57(6),
s. 959–981.
doi:
10.1002/bimj.201400160.
Se alle arbeider i Cristin
Publisert
5. jan. 2015 12:32
- Sist endret
10. des. 2022 00:03