Two-stage candidate gene study of chromosome 3p demonstrates an association between nonsynonymous variants in the MST1R gene and Crohn's disease

Inflammatory Bowel Diseases
John B BecklyD P Jewell

Abstract

Genomewide linkage studies identified chromosome 3p21 as an IBD locus. Genomewide association studies have supported this locus and the Wellcome Trust Case Control Consortium (WTCCC) study narrowed it to a 0.6 Mb region. Our objectives were to perform a 2-stage candidate gene association study of the 3p locus and to identify linkage disequilibrium (LD) between significant single-nucleotide polymorphisms (SNPs) and an Oxfordshire subset (n = 282) of the WTCCC as well as the HapMap SNPs. A total of 197 SNPs in 53 genes from the 3p locus were genotyped on the Illumina platform in a screening cohort of 469 Crohn's disease (CD) patients and 461 controls. Significant associations were then genotyped on the iPLEX platform in the original as well as a second cohort of 139 CD patients, 670 ulcerative colitis (UC) patients, and 1131 controls. All cases and controls were Caucasian and from the Oxfordshire region of the UK. An intronic SNP rs1128535 in the TRAIP gene was associated with CD in the screening and validation cohorts (combined [n = 608] P = 0.0004 [corrected 0.002], odds ratio [OR] 0.77, 95% confidence interval [CI], 0.67-0.89]). No association was seen for UC. Epistasis was seen with the common CARD15 mutations (P = 0.00003 [c...Continue Reading

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Citations

Jul 26, 2008·Nature Reviews. Immunology·Ramnik J Xavier, John D Rioux
May 21, 2009·Annual Review of Genomics and Human Genetics·Johan Van LimbergenJack Satsangi
May 12, 2009·Memórias do Instituto Oswaldo Cruz·Sarra E JamiesonJenefer M Blackwell
Mar 12, 2010·World Journal of Gastroenterology : WJG·Jia-Fei ChengLin Lin
Jan 6, 2012·World Journal of Gastroenterology : WJG·Epameinondas V TsianosVasileios E Tsianos
Jan 19, 2012·World Journal of Gastroenterology : WJG·Epameinondas V TsianosVasileios E Tsianos
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Mar 24, 2010·Human Immunology·Angharad R MorganLynnette R Ferguson
Jul 5, 2008·Expert Review of Molecular Diagnostics·Aleixo Muise, Daniela Rotin
Jul 21, 2016·Scientific Reports·Natarajan PerumalFranz H Grus
Apr 25, 2009·Parasite Immunology·J M BlackwellM E Wilson
Apr 19, 2012·Experimental Dermatology·Christophe ChapardMarcel Huber
Apr 20, 2014·American Journal of Physiology. Gastrointestinal and Liver Physiology·Rishikesh M KulkarniSusan E Waltz

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