ArticleHuman genetics2006
Evidence of transmission ratio distortion of DLG5 R30Q variant in general and implication of an association with Crohn disease in men.
Article in Human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 6 of them syntheses that pooled it.
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Who cites it
26 citing papers in PubMed, 6 syntheses or guidelines pooled it, 75 citations in OpenAlex.
- A systematic review and critical analysis of the evidence for transmission ratio distortion in humans.Genetics · 2026Pooled it
- Sex-related differences in profiles and clinical outcomes of Inflammatory bowel disease: a systematic review and meta-analysis.BMC gastroenterology · 2024Pooled it
- Sex-Dimorphic Analyses Identify Novel and Sex-Specific Genetic Associations in Inflammatory Bowel Disease.Inflammatory bowel diseases · 2023Pooled it
- Meta-analysis of associations between DLG5 R30Q and P1371Q polymorphisms and susceptibility to inflammatory bowel disease.Scientific reports · 2016Pooled it
- Transmission distortion in Crohn's disease risk gene ATG16L1 leads to sex difference in disease association.Inflammatory bowel diseases · 2012Pooled it
- Intestinal cancer risk in Crohn's disease: a meta-analysis.Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary Tract · 2011Pooled it
- Promotor polymorphisms of plasminogen activator inhibitor-1 and other thrombophilic genotypes in cerebral venous thrombosis: a case-control study in adults.Journal of neurology · 2012Trial
- The Global, Regional, and National Burden of Inflammatory Bowel Disease among Children and Adolescents from 1990 to 2021 and Trend Projections up to 2036.Gut and liver · 2026Article
- Impact of Female Gender in Inflammatory Bowel Diseases: A Narrative Review.Journal of personalized medicine · 2023Review
- Sex-based differences in inflammatory bowel diseases: a review.Therapeutic advances in gastroenterology · 2020Review
- Analysis of Case-Parent Trios Using a Loglinear Model with Adjustment for Transmission Ratio Distortion.Frontiers in genetics · 2016Article
- Article
- Transmission ratio distortion: review of concept and implications for genetic association studies.Human genetics · 2013Review
- Identification of two maternal transmission ratio distortion loci in pedigrees of the Framingham heart study.Scientific reports · 2013Article
- Genetic variants associated with Crohn's disease.The application of clinical genetics · 2013Article
- Article
- The genetics of inflammatory bowel disease: diagnostic and therapeutic implications.World journal of pediatrics : WJP · 2010Review
- Genetic association of nonsynonymous variants of the IL23R with familial and sporadic inflammatory bowel disease in women.Digestive diseases and sciences · 2010Article
- The Crohn's disease susceptibility gene DLG5 as a member of the CARD interaction network.Journal of molecular medicine (Berlin, Germany) · 2008Article
- Inflammatory bowel disease: genetic and epidemiologic considerations.World journal of gastroenterology · 2008Review
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recently, we described the association of genetic variation in the discs large homolog 5 (DLG5) gene with inflammatory bowel disease (IBD) in a large European study sample (Stoll et al. in Nat Genet 36:476-480, 2004). Here, we report that the R30Q variant constitutes a susceptibility factor for Crohn disease (CD) in men [odds ratio (OR)=2.49, 95% confidence interval (CI) 1.53-4.06, P<0.001] but not women (OR=1.01, 95% CI=0.70-1.45, P=0.979) using multivariate logistic regression analyses in a unified study sample from Germany, Italy and Quebec. R30Q is a significant predictor for CD in men even when accounting for CARD15 and IBD5 risk variants (adjusted OR=2.41, 95% CI=1.41-4.12, P=0.001). The observed association is driven by a gender-dependent transmission ratio distortion (TRD) among healthy controls (frequency of Q allele: men 5.2%, women 11.3%), an effect that is offset in CD patients (frequency of Q allele: men 10.1%, women 10.9%). This finding is further substantiated by two non-IBD study samples, one of which consists of a newborn screening sample (newborn males 7.1%; newborn females 11%, P=0.036). Further investigation of the observed TRD may contribute towards enlightening the role of DLG5 in physiological processes influencing transmission of chromosomes to the surviving offspring, which, in turn, may help in understanding its implication in the development of CD among men.
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