Genome-wide association study signal at the 12q12 Locus for Crohn's disease may represent associations with the MUC19 gene

Vijay Kumar, David R. Mack, Valerie Marcil, David Israel, Alfreda Krupoves, Irina Costea, Philippe Lambrette, Guy Grimard, Jinsong Dong, Ernest G. Seidman, Devendra K. Amre, Emile Levy

Research output: Contribution to journalArticlepeer-review


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 (6SD) age at diagnosis was 12.4 (63.3). 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.

Original languageEnglish (US)
Pages (from-to)1254-1259
Number of pages6
JournalInflammatory bowel diseases
Issue number6
StatePublished - May 2013
Externally publishedYes


  • Association
  • Children
  • Crohn's disease
  • LRRK2 gene
  • MUC19

ASJC Scopus subject areas

  • Immunology and Allergy
  • Gastroenterology


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