Functional studies on the IBD susceptibility gene IL23R implicate reduced receptor function in the protective genetic variant R381Q.

doi:10.1371/journal.pone.0025038

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Article

Functional studies on the IBD susceptibility gene IL23R implicate reduced receptor function in the protective genetic variant R381Q.

PloS one - 1 Jan 2011

Pidasheva Svetlana, Trifari Sara, Phillips Anne, Hackney Jason A, Ma Yan, Smith Ashley, Sohn Sue J, Spits Hergen, Little Randall D, Behrens Timothy W, Honigberg Lee, Ghilardi Nico, Clark Hilary F

Abstract excerpt

Genome-wide association studies (GWAS) in several populations have demonstrated significant association of the IL23R gene with IBD (Crohn's disease (CD) and ulcerative colitis (UC)) and psoriasis, suggesting that perturbation of the IL-23 signaling pathway is relevant to the pathophysiology of these diseases. One particular variant, R381Q (rs11209026), confers strong protection against development of CD. We...

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PMID: 22022372
DOI: 10.1371/journal.pone.0025038
PMCID: PMC3192060

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Functional studies on the IBD susceptibility gene IL23R implicate reduced receptor function in the protective genetic variant R381Q.PMID 22022372Read ↗

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