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Analysis of shared heritability in common disorders of the brain
It is demonstrated that, in the general population, the personality trait neuroticism is significantly correlated with almost every psychiatric disorder and migraine, and it is shown that both psychiatric and neurological disorders have robust correlations with cognitive and personality measures.
Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.
Physical Activity Attenuates the Influence of FTO Variants on Obesity Risk: A Meta-Analysis of 218,166 Adults and 19,268 Children
A fairly substantial attenuation by physical activity on the effects of this genetic variant on the risk of obesity in adults is reported.
Loss-of-function mutations in SLC30A8 protect against type 2 diabetes
Loss-of-function mutations in humans provide strong evidence that SLC30A8 haploinsufficiency protects against type 2 diabetes, suggesting ZnT8 inhibition as a therapeutic strategy in T2D prevention.
The genetics of attention deficit/hyperactivity disorder in adults, a review
Progress in identifying aADHD risk genes may provide tools for the prediction of disease progression in the clinic and better treatment, and ultimately may help to prevent persistence of ADHD into adulthood.
A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication.
Functional studies revealed that LPHN3 variants are expressed in key brain regions related to attention and activity, affect metabolism in neural circuits implicated in ADHD, and are associated with response to stimulant medication.
Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors
An expanded GWAS of birth weight and subsequent analysis using structural equation modeling and Mendelian randomization decomposes maternal and fetal genetic contributions and causal links between birth weight, blood pressure and glycemic traits.
Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23–related hypophosphatemia, dental anomalies, and ectopic calcification
- S. Rafaelsen, H. Ræder, R. Bjerknes
- Medicine, BiologyJournal of bone and mineral research : the…
- 1 June 2013
The results demonstrate that mutations in FAM20C provide a putative new mechanism in human subjects leading to dysregulated FGF23 levels, hypophosphatemia, hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis of the long bones in the absence of rickets.
Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.
FTO, Type 2 Diabetes, and Weight Gain Throughout Adult Life
It is identified that a variant in FTO alters type 2 diabetes risk partly independent of its observed effect on BMI, and the additional weight gain as a result of the FTO risk variant seems to occur before adulthood, andThe BMI difference remains stable thereafter.