The MYO9B gene is a strong risk factor for developing refractory celiac disease

Clin Gastroenterol Hepatol. 2007 Dec;5(12):1399-405, 1405.e1-2. doi: 10.1016/j.cgh.2007.08.018. Epub 2007 Oct 29.


Background & aims: Celiac disease (CD) is associated with HLA-DQ2 and HLA-DQ8 and has been linked to genetic variants in the MYO9B gene on chromosome 19. HLA-DQ2 homozygosity is associated with complications of CD such as refractory celiac disease type II (RCD II) and enteropathy-associated T-cell lymphoma (EATL). We investigated whether MYO9B also predisposes to RCD II and EATL.

Methods: Genotyping of MYO9B and molecular HLA-DQ2 typing were performed on 62 RCD II and EATL patients, 421 uncomplicated CD patients, and 1624 controls.

Results: One single nucleotide polymorphism in MYO9B showed a significantly different allele distribution in RCD II and EATL patients compared with controls (P = .00002). The rs7259292 T allele was significantly more frequent in RCD II and EATL patients compared with CD patients (P = .0003; odds ratio [OR], 3.61; 95% confidence interval [CI], 1.78-7.31). The frequency of the haplotype carrying the T allele of this single nucleotide polymorphism was significantly increased in RCD II and EATL patients (11%), compared with controls (2%) and CD patients (3%) (OR, 6.76; 95% CI, 3.40-13.46; P = 2.27E-09 and OR, 4.22; 95% CI, 1.95-9.11; P = .0001, respectively). Both MYO9B rs7259292 and HLA-DQ2 homozygosity increase the risk for RCD II and EATL to a similar extent when compared with uncomplicated CD patients (OR, 4.3; 95% CI, 1.9-9.8 and OR, 5.4; 95% CI, 3.0-9.6, respectively), but there was no evidence for any interaction between these 2 risk factors.

Conclusions: We show that both MYO9B and HLA-DQ2 homozygosity might be involved in the prognosis of CD and the chance of developing RCD II and EATL.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Alleles
  • Celiac Disease / blood
  • Celiac Disease / genetics*
  • Confidence Intervals
  • DNA / genetics*
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genotype
  • HLA-DQ Antigens / blood
  • HLA-DQ Antigens / genetics
  • Humans
  • Male
  • Middle Aged
  • Myosins / blood
  • Myosins / genetics*
  • Odds Ratio
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational*
  • Prognosis
  • Risk Factors


  • HLA-DQ Antigens
  • HLA-DQ2 antigen
  • myosin IXB
  • DNA
  • Myosins