Insights from GWAS: emerging landscape of mechanisms underlying complex trait disease.

ABSTRACT:

Background

There are now over 2000 loci in the human genome where genome wide association studies (GWAS) have found one or more SNPs to be associated with altered risk of a complex trait disease. At each of these loci, there must be some molecular level mechanism relevant to the disease. What are these mechanisms and how do they contribute to disease?

Results

Here we consider the roles of three primary mechanism classes: changes that directly alter protein function (missense SNPs), changes that alter transcript abundance as a consequence of variants close-by in sequence, and changes that affect splicing. Missense SNPs are divided into those predicted to have a high impact on in vivo protein function, and those with a low impact. Splicing is divided into SNPs with a direct im

SUBMITTER: Pal LR 

PROVIDER: S-EPMC4480957 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature