Author pages are created from data sourced from our academic publisher partnerships and public sources.
Share This Author
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Genetic studies of body mass index yield new insights for obesity biology
A genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals provide strong support for a role of the central nervous system in obesity susceptibility.
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease
In addition to the APOE locus (encoding apolipoprotein E), 19 loci reached genome-wide significance (P < 5 × 10−8) in the combined stage 1 and stage 2 analysis, of which 11 are newly associated with Alzheimer's disease.
Vitamin D-binding protein and vitamin D status of black Americans and white Americans.
- Camille E. Powe, M. Evans, R. Thadhani
- Medicine, BiologyThe New England journal of medicine
- 20 November 2013
Community-dwelling black Americans, as compared with whites, had low levels of total 25-hydroxyvitamin D and vitamin D-binding protein, resulting in similar concentrations of estimated bioavailable 25-Hydroxyv vitamin D.
Defining the role of common variation in the genomic and biological architecture of adult human height
The results indicate a genetic architecture for human height that is characterized by a very large but finite number of causal variants, including mTOR, osteoglycin and binding of hyaluronic acid.
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
Genome-Wide Association Study reveals genetic risk underlying Parkinson’s disease
It is demonstrated that an unequivocal role for common genetic variants in the etiology of typical PD and population-specific genetic heterogeneity in this disease is suggested, and supporting evidence that common variation around LRRK2 modulates risk for PD is provided.
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson’s disease
A meta-analysis of Parkinson's disease genome-wide association studies using a common set of 7,893,274 variants found four loci, including GBA, GAK-DGKQ, SNCA and the HLA region, contain a secondary independent risk variant.
New genetic loci link adipose and insulin biology to body fat distribution
A genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms.
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations
New candidate genes for serum urate concentration highlight the importance of metabolic control of urate production and excretion, which may have implications for the treatment and prevention of gout.