Objective: Some studies have been carried out to evaluate the association between SNP12 in estrogen receptor 1 and cryptorchidism, but the results remain inconsistent. We carried out a meta-analysis to explore the association between this polymorphism and cryptorchidism risk.
Methods: All eligible studies were searched in PubMed, Web of Science, Embase and Cochrane Library. Pooled odds ratios, with 95 % confidence intervals, were assessed for the association using fixed- and random-effects models.
Results: Overall, four case-control studies (363 cases, 415 controls) were included in the meta-analysis. No significant publication bias (P Begg = 0.308, P Egger = 0.288) was found. A allele of SNP12 in estrogen receptor 1 was protective factor to cryptorchidism in allele model, dominant genetic model and heterozygote comparison in Caucasians, but the result was turned out to be false positive by trial sequential analysis. However, A in allele model was risk factor to cryptorchidism in Asians (odds ratio 2.02, 95 % confidence interval 1.03-3.01, p = 0.946 for heterogeneity) and the result was turned out to be true positive by trial sequential analysis, even though there were merely two original studies.
Conclusions: The results of this meta-analysis suggest that A allele of SNP12 in estrogen receptor 1 may increase the risk of cryptorchidism in Asians. Meanwhile, further well-designed studies with large sample sizes are required to confirm the present findings, especially in Caucasians.
Keywords: Cryptorchidism; Estrogen receptor alpha; Meta-analysis; Polymorphism.