Identification of candidate protective variants for common diseases and evaluation of their protective potential.

ABSTRACT:

Background

Human polymorphisms with derived alleles that are protective against disease may provide powerful translational opportunities. Here we report a method to identify such candidate polymorphisms and apply it to common non-synonymous SNPs (nsSNPs) associated with common diseases. Our study also sought to establish which of the identified protective nsSNPs show evidence of positive selection, taking this as indirect evidence that the protective variant has a beneficial effect on phenotype. Further, we performed an analysis to quantify the predicted effect of each protective variant on protein function/structure.

Results

An initial analysis of eight SNPs previously identified as associated with age-related macular degeneration (AMD), revealed that two of them have a der

SUBMITTER: Butler JM 

PROVIDER: S-EPMC5543444 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature