Linking short tandem repeat polymorphisms with cytosine modifications in human lymphoblastoid cell lines.

ABSTRACT: Inter-individual variation in cytosine modifications has been linked to complex traits in humans. Cytosine modification variation is partially controlled by single nucleotide polymorphisms (SNPs), known as modified cytosine quantitative trait loci (mQTL). However, little is known about the role of short tandem repeat polymorphisms (STRPs), a class of structural genetic variants, in regulating cytosine modifications. Utilizing the published data on the International HapMap Project lymphoblastoid cell lines (LCLs), we assessed the relationships between 721 STRPs and the modification levels of 283,540 autosomal CpG sites. Our findings suggest that, in contrast to the predominant cis-acting mode for SNP-based mQTL, STRPs are associated with cytosine modification levels in both cis-acting (loca

SUBMITTER: Zhang Z 

PROVIDER: S-EPMC4715638 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature