Association between the IRF6 rs2235371 polymorphism and the risk of nonsyndromic cleft lip with or without cleft palate in Chinese Han populations: A meta-analysis

Abstract Objective To investigate the association between the risk of nonsyndromic cleft lip with or without cleft palate (NSCL/P) and the IRF6 rs2235371 (C > T) polymorphism in Chinese Han populations. Design PubMed, Web of Science and EMBASE were searched through May 31, 2016, to select eligible studies. Pooled odds ratios (ORs) with 95% confidence intervals (95% CIs) were applied to estimate the risk of NSCL/P associated with the IRF6 rs2235371 polymorphism. Subgroup analyses were conducted according to NSCL/P types (CLO, CPO and CLP) and the geographical location (Northern China and Southern China). Publication bias and sensitivity analyses were performed to assess the reliability of the results. Results A total of 1275 NSCL/P cases and 1294 controls from seven eligible case-control studies were included. In the overall analysis, a significant association between the IRF6 rs2235371 polymorphism and the risk of NSCL/P was identified under all genetic models, with the exception of the recessive model (T vs. C: OR = 0.68, 95%CI = 0.60-0.76, P  Conclusions The IRF6 rs2235371 T allele decreased the risk of NSCL/P in Chinese Han populations. However, further studies with large sample sizes should be conducted to confirm this association.