Complex nature of SNP genotype effects on gene expression in primary human leucocytes.

ABSTRACT:

Background

Genome wide association studies have been hugely successful in identifying disease risk variants, yet most variants do not lead to coding changes and how variants influence biological function is usually unknown.

Methods

We correlated gene expression and genetic variation in untouched primary leucocytes (n = 110) from individuals with celiac disease - a common condition with multiple risk variants identified. We compared our observations with an EBV-transformed HapMap B cell line dataset (n = 90), and performed a meta-analysis to increase power to detect non-tissue specific effects.

Results

In celiac peripheral blood, 2,315 SNP variants influenced gene expression at 765 different transcripts (< 250 kb from SNP, at FDR = 0.05, cis expression quantitative tra

SUBMITTER: Heap GA 

PROVIDER: S-EPMC2628677 | biostudies-literature | 2009 Jan

REPOSITORIES: biostudies-literature