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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. Expand
Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.
- T. Fiskerstrand, D. H'mida-Ben Brahim, +16 authors P. Knappskog
- Biology, Medicine
- American journal of human genetics
- 10 September 2010
The findings show that ABHD12 performs essential functions in both the central and peripheral nervous systems and the eye, and any future drug-mediated interference with this enzyme should consider the potential risk of long-term adverse effects. Expand
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. Expand
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. Expand
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. Expand
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. Expand
Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23–related hypophosphatemia, dental anomalies, and ectopic calcification
- S. Rafaelsen, H. Ræder, +4 authors R. Bjerknes
- Medicine, Biology
- Journal 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. Expand
Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors
Expanded genome-wide association analyses of own BW and offspring BW identified 278 independent association signals influencing BW, and shows that the association between lower BW and higher adult BP is attributable to genetic effects, and not to intrauterine programming. Expand
Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction
Findings link diabetes to the disrupted function of a lipase in the pancreatic acinar cells and some evidence for an association between common insertions in the CEL VNTR and exocrine dysfunction is found in a group of 182 unrelated subjects with diabetes. Expand
Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.
It is shown that disease-causing mutations in the AIRE locus are more common than previously appreciated and cause more variable autoimmune phenotypes and that the PHD1 dominant mutants were found with relatively high frequency in mixed populations. Expand