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DLG5 R30Q variant is a female-specific protective factor in pediatric onset Crohn's disease
Vincent Biank1, Frauke Friedrichs, Umesh Babusukumar
1Department of Pediatrics, Medical College Wisconsin, Milwaukee, Wisconsin 53226, USA.
Insights
The DLG5 R30Q variant shows no overall association with pediatric Crohn's disease (CD). However, it appears protective in female children, suggesting a gender-specific role in CD susceptibility.
Area of Science:
- Genetics
- Pediatric Gastroenterology
- Immunology
Background:
- The DLG5 R30Q variant is associated with adult inflammatory bowel disease (IBD).
- Gender influences susceptibility to Crohn's disease (CD) and its genetic associations.
- Pediatric CD incidence is lower in females than males.
Purpose of the Study:
- To investigate the gender-specific influence of the DLG5 R30Q variant on pediatric CD susceptibility.
- To analyze gene-gender interactions in the context of pediatric CD.
Main Methods:
- Genotyping of DLG5 R30Q in 281 pediatric CD cases and 479 controls.
- Association analysis using case-control and transmission disequilibrium testing.
- Multivariate logistic regression for gene-gene, gene-gender interactions, and genotype-phenotype correlations.
Main Results:
- No overall association between DLG5 R30Q and pediatric CD (OR 0.81, P=0.3).
- Significant negative association (protective effect) of R30Q in female children (OR 0.39, P=0.006).
- No significant association observed in male children.
- Gender significantly modified the association between R30Q and CD.
Conclusions:
- DLG5 plays a gender-specific role in pediatric CD susceptibility.
- The DLG5 R30Q variant demonstrates a protective effect in female children with CD.
- This finding highlights the importance of considering gender in genetic studies of pediatric CD.
Objective:
A significant association between the DLG5 variant (R30Q) and inflammatory bowel disease (IBD) has been confirmed in several independent adult IBD cohorts. There is growing evidence that gender significantly influences R30Q susceptibility in Crohn's disease (CD). Pediatric onset CD features a significantly lower incidence for female children compared with male children. We, therefore, studied the influence of gender on R30Q susceptibility in an exclusively pediatric onset IBD cohort.
Design:
A total of 281 CD (181 trios) and 479 population-based controls were genotyped for DLG5 R30Q using Taqman assay. Association was tested by case-control and transmission disequilibrium testing analysis. Multivariate logistic regression was performed to investigate gene-gene and gene-gender interactions, as well as genotype-phenotype correlations.
Results:
Overall allele frequency for R30Q was 8.5% in CD and 10.3% in controls. Logistic regression showed R30Q had no association with CD (OR 0.81, 95% CI 0.55-1.20, P= 0.3) when the cohort was analyzed as a whole. Stratified by gender, a significant negative association was detected for R30Q in female children (OR 0.39, 95% CI 0.2-0.77, P= 0.006), but not in male children. Gender was found to be an effect modifier of the association between R30Q and CD as the odds ratios in female children and male children differed significantly. The gender-specific association of R30Q and CD was independent of additional CD risk factors such as CARD15 and IBD5.
Conclusions:
DLG5 has a gender-specific role in the susceptibility of pediatric CD. Specifically, the significant negative association found between DLG5 R30Q and CD in female children suggests DLG5 may have a protective effect in CD susceptibility for female children.
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