Background: DLG5 p.R30Q has been reported to be associated with Crohn’s disease (CD), but this association has not been replicated in most studies. A recent analysis of gender-stratified data from two case-control studies and two population cohorts found an association of DLG5 30Q with increased risk of CD in men, but not in women, and found differences between male and female 30Q population frequencies. Male-female differences in population allele frequencies and male-specific risk could explain the difficulty in replicating the association with CD.
Methods: We collected DLG5 R30Q genotype data for CD patients and controls from 11 studies that did not include gender-stratified allele counts in their published reports, and we tested for male-female frequency differences in controls, and for case-control frequency differences in men and in women
Results: Our data shows no male-female allele frequency differences in controls. An exact conditional test gives marginal evidence that 30Q is associated with decreased risk of CD in women (p = 0.049, OR 0.87, 95% CI 0.77-1.00). There was also a trend of reduced 30Q frequencies in male CD patients compared to male controls, but this was not significant at the 0.05 level (p = 0.058, OR 0.87, 95% CI 0.74–1.01). When our data are combined with previously published, gender-stratified data, the 30Q allele is associated with decreased risk of CD in women (p = 0.010, OR 0.86, 95% CI 0.76-0.97), but not in men.
Conclusion: DLG5 30Q is associated with a small reduction in risk of CD in women.
- Crohn's disease
- inflammatory bowel disease
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