Inflammatory Bowel Diseases

Skip Navigation LinksHome > May 2013 - Volume 19 - Issue 6 > Genome-wide Association Study Signal at the 12q12 Locus for...
Inflammatory Bowel Diseases:
doi: 10.1097/MIB.0b013e318281f454
Original Basic Science Article

Genome-wide Association Study Signal at the 12q12 Locus for Crohn’s Disease May Represent Associations with the MUC19 Gene

Kumar, Vijay PhD*; Mack, David R. MD; Marcil, Valerie PhD; Israel, David MD§; Krupoves, Alfreda PhD*,‖; Costea, Irina PhD; Lambrette, Philippe MSc*; Grimard, Guy MD*,**; Dong, Jinsong BSc*; Seidman, Ernest G. MD††; Amre, Devendra K. MBBS, PhD*; Levy, Emile PhD*,‡‡

Supplemental Author Material
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Background: Genome-wide association studies (GWAS) in Crohn’s disease (CD) have identified associations with single-nucleotide polymorphism (SNP) rs11175593 at chromosome 12q12. The MUC19 and LRRK2 genes reside close to the GWAS signal, but it is as yet unclear which of the 2 genes represent the CD susceptibility genes.

Methods: We studied associations between nonsynonymous coding variants in the MUC19 (5) and LRRK2 (3) genes in a case–control sample comprising CD cases aged <18 years at diagnosis. The GWAS lead SNP rs11175593 was also investigated. Allelic, genotype, and haplotype associations were examined assuming different models of inheritance.

Results: A total of 530 cases and 600 controls were studied. The mean (±SD) age at diagnosis was 12.4 (±3.3). Most cases were male (57.4%). Most patients had ileocolonic disease location (48.8%) and inflammatory behavior at diagnosis (87.0%). Three MUC19 SNPs were nominally significantly associated with CD (rs11564245, Asp→His: P = 0.02; rs4768261, Ser→Phe: P = 0.0008; and rs2933353, Glu→Ala: P = 0.01). Associations with rs4768261 were maintained after corrections for multiple comparisons (permuted, P = 0.007). None of the LRRK2 SNPs were associated with CD. Haplotype analysis supported the single SNP associations noted with the MUC19 gene.

Conclusions: GWAS signal at chromosome 12q12 for CD may represent associations with the MUC19 gene.

© Crohn's & Colitis Foundation of America, Inc.

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