Background Mandibular prognathism (MP) is a highly heritable craniofacial skeletal disorder with a complex genetic architecture. Among the candidate genes, the association between the MYO1H rs10850110 (G > A) polymorphism and MP susceptibility has been extensively investigated, although the findings have been inconsistent across different populations. This systematic review and meta-analysis aimed to synthesize the available evidence on the association between this variant and MP. Methods A systematic search of PubMed, Scopus, and Web of Science was conducted from database inception to May 2026 in accordance with the PRISMA guidelines. Case-control studies evaluating the association between MYO1H rs10850110 and MP were included. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were calculated under five genetic models using random-effects analyses. Subgroup analyses and leave-one-out sensitivity analyses were performed to explore heterogeneity and assess the robustness of the pooled estimates. Results Nine studies involving 472 individuals with MP and 635 controls from seven study populations/regions were included. In the primary analysis, the A allele was associated with an increased risk of MP under the allelic model (OR = 1.38, 95% CI: 1.13–1.68, P = 0.002), although substantial between-study heterogeneity was observed (I² = 87.4%). Significant associations were also identified under the dominant, heterozygous and homozygous models. Subgroup analysis indicated that the observed association was limited to populations from the Americas, whereas no significant association was detected in Asian populations. However, leave-one-out sensitivity analysis demonstrated that the pooled effect was largely driven by a single influential study, and exclusion of this study rendered the association non-significant (OR = 0.98, 95% CI: 0.78–1.22). Conclusions Current evidence does not support a consistent and robust association between the MYO1H rs10850110 polymorphism and susceptibility to MP. Larger, well-designed multi-ethnic studies using standardized phenotyping and functional validation are needed to clarify the role of this variant in the genetic etiology of MP. Trial registration PROSPERO registration: [CRD420261376413].
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Pakdel et al. (2026) studied this question.
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