Functional SNPs in the Human Autoimmunity-Associated Locus 17q12-21

Overview

Journal Genes (Basel)

Publisher MDPI

Date 2019 Jan 26

PMID 30678091

Citations 6

Authors

Alina S Ustiugova

Kirill V Korneev

Dmitry V Kuprash

And Marina A Afanasyeva

Affiliations

Soon will be listed here.

Abstract

Genome-wide association studies (GWASes) revealed several single-nucleotide polymorphisms (SNPs) in the human 17q12-21 locus associated with autoimmune diseases. However, follow-up studies are still needed to identify causative SNPs directly mediating autoimmune risk in the locus. We have chosen six SNPs in high linkage disequilibrium with the GWAS hits that showed the strongest evidence of causality according to association pattern and epigenetic data and assessed their functionality in a local genomic context using luciferase reporter system. We found that rs12946510, rs4795397, rs12709365, and rs8067378 influenced the reporter expression level in leukocytic cell lines. The strongest effect visible in three distinct cell types was observed for rs12946510 that is predicted to alter MEF2A/C and FOXO1 binding sites.

Citing Articles

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