Evidence for a second ankylosing spondylitis-associated <i>RUNX3</i> regulatory polymorphism.

ABSTRACT:

Objectives

To explore the functions of RUNX3 single nucleotide polymorphisms (SNPs) associated with ankylosing spondylitis (AS).

Methods

Individual SNP associations were evaluated in 4230 UK cases. Their effects on transcription factor (TF) binding, transcription regulation, chromatin modifications, gene expression and gene interactions were tested by database interrogation, luciferase reporter assays, electrophoretic mobility gel shifts, chromatin immunoprecipitation and real-time PCR.

Results

We confirmed the independent association of AS with rs4265380, which was robust (P=4.7×10^-6) to conditioning on another nearby AS-associated RUNX3 SNP (rs4648889). A RUNX3 haplotype incorporating both SNPs was strongly associated wi

SUBMITTER: Vecellio M 

PROVIDER: S-EPMC5845418 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature