Genetic Risk Variants for Autoimmune Diseases that Influence Gene Expression in Thymus

ABSTRACT: Genome-wide association studies (GWAS) have boosted our knowledge of genetic risk variants in autoimmune diseases (AIDs). Most of the risk variants are located within or near genes with immunological functions, and the majority is found to be non-coding, pointing towards a regulatory role. We have performed a cis expression quantitative trait locus (eQTL) screen to investigate whether single nucleotide polymorphisms (SNPs) associated with AIDs influence gene expression in thymus. Genotyping was performed using the Immunochip and 353 AID associated SNPs were tested against expression of surrounding genes (+/- 1 Mb) from human thymic tissue (N=42). We identified eight genes where the expression was associated with AID risk SNPs at a study-wide level of significance (P < 2.57x10-5). Five ge

ORGANISM(S): Homo sapiens

SUBMITTER: Ingvild Gabrielsen 

PROVIDER: E-GEOD-77052 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress