Functional relevance for central cornea thickness-associated genetic variants by using integrative analyses.

ABSTRACT:

Background

The genetic architecture underlying central cornea thickness (CCT) is far from understood. Most of the CCT-associated variants are located in the non-coding regions, raising the difficulty of following functional characterizations. Thus, integrative functional analyses on CCT-associated loci might benefit in overcoming these issues by prioritizing the hub genes that are located in the center of CCT genetic network.

Methods

Integrative analyses including functional annotations, enrichment analysis, and protein-protein interaction analyses were performed on all reported CCT GWAS lead SNPs, together with their proxy variants. Functional annotations were conducted by CADD, GWAVA, and Eigen. Enrichment analyses for CCT-associated genes were performed using ToppGene sui

SUBMITTER: Zhang J 

PROVIDER: S-EPMC6094462 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature