What is it about?
NKX2-3 SNP rs11190140 is associated with inflammatory bowel disease (IBD). The T allele is over-transmitted in IBD and the C allele represents a potential CpG methylation site. We hypothesized that genetic variation and/or methylation of SNP rs11190140 may play a role in NKX2-3 gene expression by affecting transcription factor binding.
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Why is it important?
Our data suggest that rs11190140 may affect transcription factor regulattion NKX2-3 expression and have a role in IBD pathogenesis.
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This page is a summary of: NKX2-3 variant rs11190140 is associated with IBD and alters binding of NFAT, Molecular Genetics and Metabolism, September 2011, Elsevier,
DOI: 10.1016/j.ymgme.2011.06.023.
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