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- Arnau-Soler, A, et al.
(författare)
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Genome-wide by environment interaction studies of depressive symptoms and psychosocial stress in UK Biobank and Generation Scotland
- 2019
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Ingår i: Translational psychiatry. - : Springer Science and Business Media LLC. - 2158-3188. ; 9:1, s. 14-
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Tidskriftsartikel (refereegranskat)abstract
- Stress is associated with poorer physical and mental health. To improve our understanding of this link, we performed genome-wide association studies (GWAS) of depressive symptoms and genome-wide by environment interaction studies (GWEIS) of depressive symptoms and stressful life events (SLE) in two UK population-based cohorts (Generation Scotland and UK Biobank). No SNP was individually significant in either GWAS, but gene-based tests identified six genes associated with depressive symptoms in UK Biobank (DCC, ACSS3, DRD2, STAG1, FOXP2 and KYNU; p < 2.77 × 10−6). Two SNPs with genome-wide significant GxE effects were identified by GWEIS in Generation Scotland: rs12789145 (53-kb downstream PIWIL4; p = 4.95 × 10−9; total SLE) and rs17070072 (intronic to ZCCHC2; p = 1.46 × 10−8; dependent SLE). A third locus upstream CYLC2 (rs12000047 and rs12005200, p < 2.00 × 10−8; dependent SLE) when the joint effect of the SNP main and GxE effects was considered. GWEIS gene-based tests identified: MTNR1B with GxE effect with dependent SLE in Generation Scotland; and PHF2 with the joint effect in UK Biobank (p < 2.77 × 10−6). Polygenic risk scores (PRSs) analyses incorporating GxE effects improved the prediction of depressive symptom scores, when using weights derived from either the UK Biobank GWAS of depressive symptoms (p = 0.01) or the PGC GWAS of major depressive disorder (p = 5.91 × 10−3). Using an independent sample, PRS derived using GWEIS GxE effects provided evidence of shared aetiologies between depressive symptoms and schizotypal personality, heart disease and COPD. Further such studies are required and may result in improved treatments for depression and other stress-related conditions.
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- Christensen, RH, et al.
(författare)
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Renal volumetry with magnetic resonance imaging
- 2017
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Ingår i: Acta radiologica open. - : SAGE Publications. - 2058-4601. ; 6:9, s. 2058460117731120-
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Tidskriftsartikel (refereegranskat)abstract
- No gold standard exists for renal volumetry in vivo. Purpose To devise and evaluate segmentation methods on magnetic resonance imaging (MRI) datasets. Material and Methods Five combinations of MRI pulse sequences and measuring methods were used to measure the renal volumes of five men aged 54–72 years scanned before autologous renal stem cell transplantation and three, six, and 12 months post transplantation. Results Renal volume did not change after stem cell transplantation. The results varied considerably: the reproducibility (coefficient of variation) was 4.0–6.0% and measurements took 1–13 min per kidney. Manual segmentation of images from the volumetric interpolated breath-hold examination (VIBE) without fat saturation sequence provided best reproducibility but was time-consuming. Use of the ellipsoid formula from half Fourier acquisition single shot turbo spin echo (HASTE) provided the fastest measurement, but resulted in lower reproducibility. Conclusion Renal volumetry based on images from the pulse sequence VIBE without fat saturation acquired using an out-of-phase TE may be investigated further, possibly in combination with the quick ellipsoid formula.
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