NKX2-3 variant rs11190140 is associated with IBD and alters binding of NFAT.
作者： Gerrit John , John P. Hegarty , Wei Yu , Arthur Berg , Danielle M. Pastor
DOI: 10.1016/J.YMGME.2011.06.023
关键词:
摘要: NKX2-3 SNP rs11190140 is associated with inflammatory bowel disease (180). The T allele over-transmitted in IBD and the C represents a potential CpG methylation site. We hypothesize that genetic variation and/or of may play role gene expression by affecting transcription factor binding. studied 233 cases 250 unrelated healthy individuals from an population central Pennsylvania performed genotype analyses status analysis using PCR-based RFLP. For binding, nuclear extracts human B cells were incubated biotin-labeled oligonucleotide sequences promoter region containing T, non-methylated or methylated at rs11190140, followed biotin pull-down Western blot for factors SP1, NFAT1, NF-kappa B, ETS-1. In case-control analysis, was significantly (OR=0.503, 95 CI = 0.330-0.764, p<0.001). Methylation revealed subject to modification DNA methylation. binding assay indicated distinct differential NFAT1 sequence, higher those than T. rs1190140 confirmed ChIP assay. speculate regulate have pathogenesis. (C) 2011 Elsevier Inc. All rights reserved.
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