Autoimmune risk variants in ERAP2 are associated with gene-expression levels in thymus

• Published in: Genes and immunity 2016-12, Vol.17 (7), p.406-411
• Main Authors: Gabrielsen, I S M, Viken, M K, Amundsen, S S, Helgeland, H, Holm, K, Flåm, S T, Lie, B A
• Format: Article
• Language: English
• Subjects: 38; 38/61; 631/208/199; 631/208/248/144; Aminopeptidase; Aminopeptidases; Aminopeptidases - genetics; Arthritis; Autoimmune diseases; Autoimmune Diseases - genetics; Biomedical and Life Sciences; Biomedicine; Cancer Research; Child; Child, Preschool; Endoplasmic reticulum; Female; Gene Expression; Gene polymorphism; Genes; Genetic aspects; Genomes; Haplotypes; Hospitals; Human Genetics; Humans; Immunology; Infant; Linkage Disequilibrium; Male; Minor Histocompatibility Antigens - genetics; Organ Specificity; original-article; Physiological aspects; Polymorphism, Single Nucleotide; Quality control; Quantitative Trait Loci; Risk Factors; Single nucleotide polymorphisms; Single-nucleotide polymorphism; Thymus; Thymus gland; Thymus Gland - metabolism
• ISSN: 1466-4879; 1476-5470
• DOI: 10.1038/gene.2016.39

Genetic polymorphisms in the endoplasmic reticulum aminopeptidase (ERAP)1 and ERAP2 genes have been associated with several autoimmune diseases (AIDs) at a genome-wide significance level. In this study, we performed a cis expression quantitative trait locus (eQTL) screen to investigate whether seven fine-mapped AID single-nucleotide polymorphisms (SNPs) in the ERAP -region influence the gene-expression levels of ERAP1 and ERAP2 in thymus. After quality control, we identified six significant eQTLs. We further assessed the peak eQTL signals, and both genes showed highly significant and independent thymic eQTL signals ( P =2.16 × 10 −15 and P =8.22 × 10 −23 , respectively). Interestingly, the peak eQTL signal overlapped with the AID risk loci in ERAP2 ( r 2 >0.94), but were distinct in ERAP1 ( r 2