Xing Yue, Zhang Wancong, Wan Xinhong, Hong Zhiqian, Zhao Hanxing, Liang Weijie, Shi Lungang, Chen Jiasheng, Zhong Xiaoping, Zhou Jianda, Tang Shijie
Department of Burns and Plastic Surgery, Cleft Lip and Palate Treatment Center, the Second Affiliated Hospital of Shantou University Medical College, Shantou, Guangdong, China.
Department of Burns and Plastic Surgery, Cleft Lip and Palate Treatment Center, Shantou University Medical College, Shantou, Guangdong, China.
Genet Test Mol Biomarkers. 2019 Sep;23(9):652-663. doi: 10.1089/gtmb.2018.0315. Epub 2019 Aug 26.
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.
干扰素调节因子6（IRF6）基因多态性与非综合征性腭裂（NSCP）风险的相关性仍存在争议。本研究旨在评估IRF6基因多态性与NSCP风险之间的关系。招募了241例NSCP患者（包括103个完整的三联体家庭），并纳入242名未受影响的个体作为对照。对两组中IRF6基因rs2235371、rs801619、rs642961、rs44844880和rs8049367位点的多态性进行了特征分析。此外，通过检索截至2017年6月1日的数据库确定了符合条件的研究，并将其纳入荟萃分析以增强我们结论的稳健性。结果发现，病例组中rs2235371的A等位基因和AA基因型频率高于对照组（A等位基因：P＜0.0016；AA基因型：P＜0.0049）。rs801619的AA基因型和G等位基因与NSCP风险相关（G等位基因：P＜0.0061；AA基因型：P＜0.0195）。在rs642961、rs44844880和rs8049367位点，NSCP组与正常对照组之间的基因型和等位基因频率无统计学差异。在荟萃分析中，IRF6 A/G基因多态性（rs2235371）和IRF6 A/G基因多态性（rs642961）与一般人群的NSCP风险相关，而IRF6 A/C基因多态性（rs2013162）则不然。rs2235371和rs642961的IRF6 A/G基因多态性与NSCP风险相关，而rs2013162的IRF6 A/C基因多态性则不然。
