Genetic Polymorphisms and Susceptibility to Müllerian Duct Anomalies: A Meta-Analysis
Related Experiment Videos
Amaxsell Thiago Barros de Souza1,2, Ana Karla Monteiro Santana de Oliveira Freitas3,4, Ana Katherine Gonçalves1,3
1Postgraduate Program in Science Applied to Women's Health, Federal University of Rio Grande do Norte, Natal, Brazil.
Purpose:
Müllerian duct anomalies (MDAs) are congenital malformations of the female reproductive tract with complex genetic determinants. We evaluated the association between gene polymorphic variants and MDA susceptibility.
Methods:
PubMed, Embase, and Scopus were searched to September 2025 (PROSPERO: CRD420251143377). Risk of bias, evidence certainty, and association credibility were assessed using the Newcastle-Ottawa Scale, GRADE, and Venice criteria, respectively. Pooled odds ratios (ORs) were estimated under six genetic models with false discovery rate correction.
Results:
Twelve studies (2,179 cases; 2,207 controls) were included. WNT9B rs4968281 showed nominal associations under recessive (OR = 0.64, 95% CI: 0.43-0.96) and codominant (OR = 0.69, 95% CI: 0.53-0.89) models, but neither remained significant after correction. Evidence certainty was very low, and two studies showed Hardy-Weinberg disequilibrium. TBX6, PAX2, and PBX1 variants were identified as candidates for further investigation.
Conclusions:
Larger, ethnically diverse, well-characterized cohorts are needed to clarify these findings.
Related Concept Videos
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Sex-linked Disorders
Principles of Pharmacogenetics: Types of Genetic Variants