Investigation of a possible extended risk haplotype in the IL23R region associated with ankylosing spondylitis.

ABSTRACT: The IL23R region on chromosome 1 exhibits complex associations with ankylosing spondylitis (AS). We used publicly available epigenomic information and historical genetic association data to identify a putative regulatory element (PRE) in the intergenic region between IL23R and IL12RB2, which includes two single-nucleotide polymorphisms (SNPs) independently associated with AS-rs924080 (P=2 × 10^-3) and rs11578380 (P=2 × 10^-4). In luciferase reporter assays, this PRE showed silencer activity (P<0.001). Haplotype and conditional analysis of 4230 historical AS cases and 9700 controls revealed a possible AS-associated extended haplotype, including the PRE and risk variants at three SNPs (rs11209026, rs11209032 and rs924080), but excluding the rs11578380 risk variant. Howeve

SUBMITTER: Roberts AR 

PROVIDER: S-EPMC5435965 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature