title: Genetic association of DLG5 R30Q with familial and sporadic inflammatory bowel disease in men.
abstract: BACKGROUND
  The association of DLG5 R30Q with IBD has been replicated in several populations, but is not statistically significant in others. We studied the incidence of DLG5 alleles in a population of IBD patients from Pennsylvania.
  
  
  METHODS
  DLG5 R30Q (rs1248696) and G1066G (rs1248634) were analyzed with PCR-based RFLP methods in a total of 521 subjects, that included 105 individuals with IBD and 139 without IBD from a familial IBD registry, 107 with sporadic IBD, and 170 unrelated healthy controls. R30Q was further analyzed with SNPlex Genotyping System in 473 samples.
  
  
  RESULTS
  RFLP genotyping data showed that, DLG5 R30Q was significantly associated with IBD overall (p=0.006), and separately with CD (p=0.009) and UC (p=0.024). The association of R30Q with IBD was entirely due to a male-associated effect (male vs female p=0.015 vs 0.241 (IBD), p=0.024 vs 0.190 (CD), and p=0.019 vs 0.575 (UC)). The frequency of the A allele carriage was elevated in both affected and unaffected members in the familial IBD cohort compared to healthy controls (p=0.037). In the family pedigrees, we observed differences in the expression of IBD in individuals carrying the A allele between families.
  
  
  CONCLUSIONS
  In the studied population, DLG5 R30Q was associated with all forms of IBD. An elevated presence of the R30Q variant was observed in all members of a familial IBD registry. This association of the R30Q variant with IBD was male-specific.
authors.affiliation: Department of Surgery, The Pennsylvania State University College of Medicine, Hershey, 17033, USA. zlin@psu.edu
authors.forename: Z
authors.initials: Z
authors.lastname: Lin
authors.forename: L
authors.initials: L
authors.lastname: Poritz
authors.forename: A
authors.initials: A
authors.lastname: Franke
authors.forename: T Y
authors.initials: TY
authors.lastname: Li
authors.forename: A
authors.initials: A
authors.lastname: Ruether
authors.forename: K A
authors.initials: KA
authors.lastname: Byrnes
authors.forename: Y
authors.initials: Y
authors.lastname: Wang
authors.forename: A W
authors.initials: AW
authors.lastname: Gebhard
authors.forename: C
authors.initials: C
authors.lastname: MacNeill
authors.forename: N J
authors.initials: NJ
authors.lastname: Thomas
authors.forename: R
authors.initials: R
authors.lastname: Wu
authors.forename: S
authors.initials: S
authors.lastname: Schreiber
authors.forename: W A
authors.initials: WA
authors.lastname: Koltun
mesh_terms: D001483:Base Sequence; D015415:Biomarkers / Q000097:blood*; D016022:Case-Control Studies; D017931:DNA Primers; D005260:Female; D005838:Genotype; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D015415:Biomarkers; C114461:DLG5 protein, human; D017931:DNA Primers; D008565:Membrane Proteins; D025521:Tumor Suppressor Proteins