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Article

Direct or indirect association in a complex disease: the role of SLC22A4 and SLC22A5 functional variants in Crohn disease.

Human mutation - 1 Aug 2006

Fisher Sheila A, Hampe Jochen, Onnie Clive M, Daly Mark J, Curley Christine, Purcell Shaun, Sanderson Jeremy, Mansfield John, Annese Vito, Forbes Alastair, Lewis Cathryn M, Schreiber Stefan, Rioux John D, Mathew Christopher G

Abstract excerpt

A common haplotype spanning 250 kb on chromosome 5q31 is strongly associated with Crohn disease (CD). Recently, two functional variants within the SLC22A4 and SLC22A5 genes at this locus (IBD5), L503F (c.1507C > T) and G-207C (c.-207G > C), have been proposed to contribute directly to susceptibility to CD. However, extensive linkage disequilibrium at the IBD5 locus has complicated efforts to distinguish causal...

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PMID: 16835882
DOI: 10.1002/humu.20358

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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