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- Watson, H. J., et al.
(författare)
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Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa
- 2019
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 51:8
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Tidskriftsartikel (refereegranskat)abstract
- Characterized primarily by a low body-mass index, anorexia nervosa is a complex and serious illness(1), affecting 0.9-4% of women and 0.3% of men(2-4), with twin-based heritability estimates of 50-60%(5). Mortality rates are higher than those in other psychiatric disorders(6), and outcomes are unacceptably poor(7). Here we combine data from the Anorexia Nervosa Genetics Initiative (ANGI)(8,9) and the Eating Disorders Working Group of the Psychiatric Genomics Consortium (PGC-ED) and conduct a genome-wide association study of 16,992 cases of anorexia nervosa and 55,525 controls, identifying eight significant loci. The genetic architecture of anorexia nervosa mirrors its clinical presentation, showing significant genetic correlations with psychiatric disorders, physical activity, and metabolic (including glycemic), lipid and anthropometric traits, independent of the effects of common variants associated with body-mass index. These results further encourage a reconceptualization of anorexia nervosa as a metabo-psychiatric disorder. Elucidating the metabolic component is a critical direction for future research, and paying attention to both psychiatric and metabolic components may be key to improving outcomes.
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- Coumans, J M J, et al.
(författare)
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The association of emotion-driven impulsiveness, cognitive inflexibility and decision-making with weight status in European adolescents.
- 2018
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Ingår i: International journal of obesity (2005). - : Springer Science and Business Media LLC. - 1476-5497 .- 0307-0565. ; 42, s. 655-661
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Tidskriftsartikel (refereegranskat)abstract
- to explore the association between emotion-driven impulsiveness, cognitive inflexibility, decision-making and with weight status as reflected in BMI z-score (zBMI) in European adolescents.In total 3 354 adolescent aged between 12 and 18 years from the I.Family cohort completed the questionnaire based negative urgency subscale from the UPPS-P Impulsive Behavior Scale to measure emotion-driven impulsiveness in 2013/2014. Furthermore, 1 584 adolescents completed the computer-based Bergs Card Sorting Test to measure cognitive inflexibility, and 1 780 adolescents completed the Hungry Donkey Test to assess decision-making ability. Anthropometric variables were measured objectively; confounding variables (age, sex, socioeconomic status and country) were assessed using a questionnaire. Mixed-effect regression analyses were conducted for each outcome of the test or questionnaire as a predictor with standardised body mass index (zBMI) as the dependent variable in order to investigate association between markers of cognitive functioning and zBMI.After controlling for confounders, results showed that emotion-driven impulsiveness (β=0.18, 95% CI: 0.13 to 0.24, P<0.001), and cognitive inflexibility (β=0.01, 95% CI: 0.002 to 0.02, P=0.016) were positively associated with zBMI. However, decision-making ability was not significantly related to zBMI (β=0.00, 95% CI: -0.001 to 0.003, P=0.47).More emotion-driven impulsiveness and reduced cognitive flexibility were associated with a higher zBMI in adolescents across Europe. These results may indicate that being impulsive in negative situations and having difficulties changing mental sets increase the susceptibility for unhealthy weight development. Reducing impulsivity and training cognitive flexibility seem promising targets for the prevention and intervention programs of obesity.International Journal of Obesity accepted article preview online, 01 November 2017. doi:10.1038/ijo.2017.270.
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- Morris, Andrew P, et al.
(författare)
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Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies
- 2019
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1
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Tidskriftsartikel (refereegranskat)abstract
- Chronic kidney disease (CKD) affects ~10% of the global population, with considerable ethnic differences in prevalence and aetiology. We assemble genome-wide association studies of estimated glomerular filtration rate (eGFR), a measure of kidney function that defines CKD, in 312,468 individuals of diverse ancestry. We identify 127 distinct association signals with homogeneous effects on eGFR across ancestries and enrichment in genomic annotations including kidney-specific histone modifications. Fine-mapping reveals 40 high-confidence variants driving eGFR associations and highlights putative causal genes with cell-type specific expression in glomerulus, and in proximal and distal nephron. Mendelian randomisation supports causal effects of eGFR on overall and cause-specific CKD, kidney stone formation, diastolic blood pressure and hypertension. These results define novel molecular mechanisms and putative causal genes for eGFR, offering insight into clinical outcomes and routes to CKD treatment development.
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