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- W2063068388 abstract "Genome wide scanning identified a potential IBD locus on Chromosome 10 in European IBD cohort. Recently, the 113A mutation within the DLG5 gene (Drosophila Discs Large Homolog 5) at 10q23 has been linked to CD in adults. Since the susceptibility risk of this gene in early onset CD is not known, we have examined the contribution of DLG5 (113G to A) and its interaction with gender in a pediatric onset population based CD cohort. The mean age of onset in CD was 12.2 yrs. 240 CD & 479 controls were genotyped for DLG5-113A missense mutation by taqman technology. Only Caucasian samples were studied. Parental DNA was typed and joint linkage/association was tested by transmission disequilibrium test (TDT). Potential genotype-gender interaction was detected by performing logistic regression with adjustment for gender. The overall allele frequency for DLG5-113A was 8.5 % in CD and 10.3% in controls. When analyzed separately for gender effects in CD, allele frequencies were 10.2% in males (n = 142) and 6% in females (n = 98). In controls, the allele frequencies were 8.3% for males (n = 240) and 12.3% for females (n = 239). A strong male gender effect (p = 0.0013) was seen for CD susceptibility and, in contrast, a protective effect (p = 0.18) was seen in females with CD. Again, gender/DLG5 113A mutation interaction was significant (p = 0.016) for males. TDT show no significant association (p = 0.16) with our relatively small sample size of CD trios (n = 112). Conclusions: DLG5 113A mutation seems to confer CD susceptibility for the male gender, but a protective effect for females in our cohort of pediatric onset CD. This may explain the predominance of male over female CD incidence (1.9:1 ratio) seen in early onset CD, as previously published (J Pediatr 2003:143). This intriguing finding needs confirmation in large, independent IBD cohorts." @default.
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- W2063068388 date "2005-10-01" @default.
- W2063068388 modified "2023-09-24" @default.
- W2063068388 title "DLG5-113A MUTATION IS STRONGLY ASSOCIATED WITH MALE GENDER BUT PROTECTIVE IN FEMALES IN PEDIATRIC ONSET CROHN??S DISEASE (CD)" @default.
- W2063068388 doi "https://doi.org/10.1097/01.mpg.0000182038.73751.70" @default.
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