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Variance component model to account for sample structure in genome-wide association studies
A variance component approach implemented in publicly available software, EMMA eXpedited (EMMAX), that reduces the computational time for analyzing large GWAS data sets from years to hours is reported.
Biological, Clinical, and Population Relevance of 95 Loci for Blood Lipids
The results identify several novel loci associated with plasma lipids that are also associated with CAD and provide the foundation to develop a broader biological understanding of lipoprotein metabolism and to identify new therapeutic opportunities for the prevention of CAD.
Biological Insights From 108 Schizophrenia-Associated Genetic Loci
Associations at DRD2 and several genes involved in glutamatergic neurotransmission highlight molecules of known and potential therapeutic relevance to schizophrenia, and are consistent with leading pathophysiological hypotheses.
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index
18 new loci associated with body mass index are identified, one of which includes a copy number variant near GPRC5B, and genes in other newly associated loci may provide new insights into human body weight regulation.
Discovery and Refinement of Loci Associated with Lipid Levels
It is found that loci associated with blood lipid levels are often associated with cardiovascular and metabolic traits, including coronary artery disease, type 2 diabetes, blood pressure, waist-hip ratio and body mass index.
Mutational processes of simple-sequence repeat loci in human populations.
- A. Di Rienzo, A. Peterson, J. Garza, A. Valdés, M. Slatkin, N. Freimer
- BiologyProceedings of the National Academy of Sciences…
- 12 April 1994
Computer simulations were used to determine expected values of statistics that reflect frequency distributions of allele size for the two-phase model and two alternatives, the one-step and geometric models, and found that estimates of interpopulation distances from SSRs were similar to those derived from analysis of mitochondrial DNA.
Common variants conferring risk of schizophrenia
Findings implicating the MHC region are consistent with an immune component to schizophrenia risk, whereas the association with NRGN and TCF4 points to perturbation of pathways involved in brain development, memory and cognition.
Genome-wide association study identifies five new schizophrenia loci
The role of common genetic variation in schizophrenia in a genome-wide association study of substantial size is examined, suggesting MIR137-mediated dysregulation as a previously unknown etiologic mechanism in schizophrenia.
Hundreds of variants clustered in genomic loci and biological pathways affect human height
It is shown that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait, and indicates that GWA studies can identify large numbers of loci that implicate biologically relevant genes and pathways.
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population
The association observed between low-density lipoprotein and an infrequent variant in AR suggests the potential of such a cohort for identifying associations with both common, low-impact and rarer, high-impact quantitative trait loci.