Functional annotation of a novel NFKB1 promoter polymorphism that increases risk for ulcerative colitis.

@article{Karban2004FunctionalAO,
  title={Functional annotation of a novel NFKB1 promoter polymorphism that increases risk for ulcerative colitis.},
  author={Amir S Karban and Toshihiko Okazaki and Carolien I. M. Panhuysen and Thomas F. Gallegos and James M. Potter and Joan E. Bailey-Wilson and Mark S. Silverberg and Richard H. Duerr and Judy H Cho and Peter K. Gregersen and Yuqiong Wu and Jean-Paul Achkar and Themistocles Dassopoulos and Esteban Mezey and Theodore M. Bayless and Franklin J. Nouvet and Steven R Brant},
  journal={Human molecular genetics},
  year={2004},
  volume={13 1},
  pages={35-45}
}
Nuclear Factor-kappaB (NF-kappaB) is a major transcription regulator of immune response, apoptosis and cell-growth control genes, and is upregulated in inflammatory bowel disease (IBD), both ulcerative colitis (UC) and Crohn's disease. The NFKB1 gene encodes the NF-kappaB p105/p50 isoforms. Genome-wide screens in IBD families show evidence for linkage on chromosome 4q where NFKB1 maps. We sequenced the NFKB1 promoter, exon 1 and all coding exons in 10 IBD probands and two controls, and… CONTINUE READING
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