Allele-specific enhancers mediate associations between LCAT and ABCA1 polymorphisms and HDL metabolism.

ABSTRACT: For most complex traits, the majority of SNPs identified through genome-wide association studies (GWAS) reside within noncoding regions that have no known function. However, these regions are enriched for the regulatory enhancers specific to the cells relevant to the specific trait. Indeed, many of the GWAS loci that have been functionally characterized lie within enhancers that regulate expression levels of key genes. In order to identify polymorphisms with potential allele-specific regulatory effects, we developed a bioinformatics pipeline that harnesses epigenetic signatures as well as transcription factor (TF) binding motifs to identify putative enhancers containing a SNP with potential allele-specific TF binding in linkage disequilibrium (LD) with a GWAS-identified SNP. We applied the

SUBMITTER: Howard AD 

PROVIDER: S-EPMC6490890 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature