Genetic Basis of Common Human Disease: Insight into the Role of Missense SNPs from Genome-Wide Association Studies.

ABSTRACT: Recent genome-wide association studies (GWAS) have led to the reliable identification of single nucleotide polymorphisms (SNPs) at a number of loci associated with increased risk of specific common human diseases. Each such locus implicates multiple possible candidate SNPs for involvement in disease mechanism. A variety of mechanisms may link the presence of an SNP to altered in vivo gene product function and hence contribute to disease risk. Here, we report an analysis of the role of one of these mechanisms, missense SNPs (msSNPs) in proteins in seven complex trait diseases. Linkage disequilibrium information was used to identify possible candidate msSNPs associated with increased disease risk at each of 356 loci for the seven diseases. Two computational methods were used to estimate whic

SUBMITTER: Pal LR 

PROVIDER: S-EPMC4893807 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature