Functional variants of OCTN cation transporter genes are associated with Crohn disease

By V. Peltekova, R. Wintle, L. Rubin, C. Amos, Qiqing Huang, X. Gu, B. Newman, M. V. Oene, David W. Cescon, G. Greenberg and 3 more. Nature Genetics, 2004

837 citations recorded by the source corpus.

Subfields: Genetics, Oncology, Public Health, Environmental and Occupational Health

View Paper: https://www.semanticscholar.org/paper/42dbadb883459defd342459601f4016687ddb60d

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Severine Vermeire

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Citations in the corpus

Polyspecific Organic Cation Transporters: Structure, Function, Physiological Roles, and Biopharmaceutical Implications (2007, background): “In human the genes coding for OCTN1 and OCTN2 are localized in a cluster on chromosome 5q31 (33,36).”
Mechanisms of Disease: pathogenesis of Crohn's disease and ulcerative colitis (2006, background): “SLC22A4 and SLC22A5 Two functional variants of the organic cation transporters OCTN1 and OCTN2 have been associated with Crohn's disease in association with CARD15 mutations”
Candidate Causal Regulatory Effects by Integration of Expression QTLs with Complex Trait Genetic Associations (2010, result): “Our method confirms prior results in the literature suggestive of disease effects mediated through expression (ORMDL3 for asthma risk [13], C8orf13 locus for lupus risk [20], SLC22A5 for Crohn’s disease [12,21]).”
The genetics and immunopathogenesis of inflammatory bowel disease (2008, background): “Polymorphisms found on this haplotype include a Leu503Phe amino-acid substitution in organic cation transporter 1 (OCTN1; encoded by SLC22A4) and a 5′ untranslated region variant — a G → C transversion 207 base pairs upstream of the start codon — in OCTN2 (encoded by SLC22A5 ), and these polymorp”
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease (2008, background): “Although a SNP had previously been proposed as regulating SLC22A5 transcriptional activit”
A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1 (2007, neutral): “2 ), SLC22A4 and SLC22A5 within the 5q31 haplotyp”
Novel Crohn Disease Locus Identified by Genome-Wide Association Maps to a Gene Desert on 5p13.1 and Modulates Expression of PTGER4 (2007, result): “We also examined the results of the GWA with respect to other previously reported susceptibility loci, including OCTN [7], DLG5 [8], TNFSF15 [9], and ATG16L1 [10].”