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Genetic association of DLG5 R30Q with familial and sporadic inflammatory bowel disease in men

Z Lin1, L Poritz, A Franke

  • 1Department of Surgery, The Pennsylvania State University College of Medicine, Hershey, 17033, USA. zlin@psu.edu

Disease Markers
|December 29, 2009
PubMed
Abstract

Insights

The DLG5 R30Q gene variant is linked to inflammatory bowel disease (IBD) in a Pennsylvania population, particularly in males. This genetic association was observed across all IBD types and within familial IBD registries.

Area of Science:

  • Genetics
  • Gastroenterology
  • Human Health

Background:

  • The association between the DLG5 R30Q gene variant and inflammatory bowel disease (IBD) has yielded inconsistent results across different populations.
  • Previous studies have reported varying statistical significance for the DLG5 R30Q association with IBD.
  • This study investigates the prevalence of DLG5 alleles within a specific IBD patient cohort from Pennsylvania.

Purpose of the Study:

  • To examine the association between DLG5 R30Q and G1066G variants and IBD in a Pennsylvania population.
  • To determine if the DLG5 R30Q variant's association with IBD differs between sexes.
  • To investigate the presence of DLG5 alleles in familial IBD cohorts.

Main Methods:

  • Genotyping of DLG5 R30Q (rs1248696) and G1066G (rs1248634) using PCR-based RFLP.
  • Analysis of 521 subjects, including individuals with IBD, familial IBD registry members, and healthy controls.
  • Further analysis of R30Q using the SNPlex Genotyping System in a subset of samples.

Main Results:

  • DLG5 R30Q showed a significant association with IBD overall (p=0.006), Crohn's disease (CD) (p=0.009), and ulcerative colitis (UC) (p=0.024).
  • The association of R30Q with IBD was predominantly driven by a male-specific effect.
  • Elevated frequency of the DLG5 R30Q 'A' allele was observed in both affected and unaffected members of the familial IBD cohort compared to controls.

Conclusions:

  • DLG5 R30Q is significantly associated with all forms of IBD in the studied Pennsylvania population.
  • The association between the DLG5 R30Q variant and IBD is specific to males.
  • An increased prevalence of the R30Q variant was noted in all members of a familial IBD registry, suggesting a potential role in disease susceptibility within families.

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