Association Between an Interferon Regulatory Factor 6 Gene Polymorphism and Nonsyndromic Cleft Palate Risk.

Involvement of interferon regulatory factor 6 () gene polymorphisms in nonsyndromic cleft palate (NSCP) risk remains controversial. This investigation was performed to evaluate the relationship between gene polymorphisms and NSCP risk. Two hundred forty-one patients with NSCP (including 103 complete trio families) were recruited, and 242 unaffected individuals were included as controls. Polymorphisms for the rs2235371, rs801619, rs642961, rs44844880, and rs8049367 loci were characterized in both groups. Furthermore, eligible studies were identified from the databases through June 1, 2017, and were included in a meta-analysis to enhance the robustness of our conclusions. The rs2235371 A allele and AA genotype in the case group were found at higher frequencies than in the control group (A allele:  < 0.0016; AA genotype:  < 0.0049). The rs801619 AA genotype and G allele were associated with NSCP risk (G allele:  < 0.0061; AA genotype:  < 0.0195). At the rs642961, rs44844880, and rs8049367 loci genotype and allele frequencies were not statistically different between the NSCP group and normal controls. In the meta-analysis, the A/G gene polymorphism (rs2235371) and IRF6 A/G gene polymorphism (rs642961) were associated with NSCP risk in the general population, whereas the A/C gene polymorphism (rs2013162) was not. The A/G gene polymorphisms at rs2235371 and rs642961, but not the A/C gene polymorphism rs2013162, were associated with NSCP risk.