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Article

Crohn's disease and genetic hitchhiking at IBD5.

Molecular biology and evolution - 1 Jan 2012

Huff Chad D, Witherspoon David J, Zhang Yuhua, Gatenbee Chandler, Denson Lee A, Kugathasan Subra, Hakonarson Hakon, Whiting April, Davis Chadwick T, Wu Wilfred, Xing Jinchuan, Watkins W Scott, Bamshad Michael J, Bradfield Jonathan P, Bulayeva Kazima, Simonson Tatum S, Jorde Lynn B, Guthery Stephen L

Abstract excerpt

Inflammatory bowel disease 5 (IBD5) is a 250 kb haplotype on chromosome 5 that is associated with an increased risk of Crohn's disease in Europeans. The OCTN1 gene is centrally located on IBD5 and encodes a transporter of the antioxidant ergothioneine (ET). The 503F variant of OCTN1 is strongly associated with IBD5 and is a gain-of-function mutation that increases absorption of ET. Although 503F has been...

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Identifiers

PMID: 21816865
DOI: 10.1093/molbev/msr151
PMCID: PMC3245542

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