NKX2-3 variant rs11190140 is associated with IBD and alters binding of NFAT.

@article{John2011NKX23VR,
  title={NKX2-3 variant rs11190140 is associated with IBD and alters binding of NFAT.},
  author={Gerrit John and John P Hegarty and Wei Yu and Arthur Berg and Danielle M. Pastor and Ashley A. Kelly and Yunhua Wang and Lisa S. Poritz and Stefan Schreiber and Walter A. Koltun and Zhenwu Lin},
  journal={Molecular genetics and metabolism},
  year={2011},
  volume={104 1-2},
  pages={174-9}
}
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 hypothesize that genetic variation and/or methylation of SNP rs11190140 may play a role in NKX2-3 gene expression by affecting transcription factor binding. We studied 233 IBD cases and 250 unrelated healthy individuals from an IBD population from central Pennsylvania and performed genotype analyses of the genetic… CONTINUE READING