IRF6基因多态性和环境因素与非综合征型唇腭裂的相关性研究  

Association of IRF6 Gene Polymorphism and Environment Factors with Nonsyndromic Cleft Lip and Cleft Palate

作　　者：任红旺[1,2] 黄永清[1,2,3] 王珑[1,2] 

机构地区：[1]宁夏医科大学口腔医学院,银川750004 [2]宁夏口腔医学研究所,银川750004 [3]宁夏医科大学总医院口腔颌面外科,银川750004

出　　处：《宁夏医科大学学报》2012年第11期1164-1168,共5页Journal of Ningxia Medical University

基　　金：国家教育部春晖计划启动项目(Z2008-1-75020);宁夏医科大学校级青年项目(XQ201014)

摘　　要：目的探讨干扰素调节因子6(IRF6)基因单核苷酸多态性rs642961和环境因素与非综合征型唇腭裂的相关性。方法收集2007年6月-2010年6月在宁夏医科大学总医院口腔颌面外科和银川市口腔医院口腔颌面外科住院的275例唇腭裂患者,并详细填写《非综合征型唇腭裂患儿环境因素调查表》,对可能影响患儿唇腭裂发生的环境因素进行统计分析;采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测基因型,进行病例对照分析、传递不平衡检验(TDT)。结果唇裂组、唇腭裂组rs642961的AA基因型频率高于对照组,差异均有统计学意义(P<0.05),与对照组比较,唇裂组和唇腭裂组患者IRF6基因rs642961的A等位基因存在过传递(P<0.05),而腭裂组患者此差异无统计学意义(P=0.132),与唇腭裂发生有关的环境因素有母亲被动吸烟、母亲流产史、孕期病史、孕期服药史;孕期补充维生素叶酸则可以减少患病风险。结论 IRF6基因rs642961多态性与非综合征型唇腭裂存在相关性,环境因素与唇腭裂的发生也存在着密切的关系。Objective To investigate the association of Interferon Regulatory Factor 6（IRF6） gene polymorphism with nonsyndromic cleft lip and cleft palate（NSCL/P）.Methods 275 cases with nonsyndromic cleft lip and cleft palate and 288 healthy controls were collected.A questionnaire was finished in each case and control.DNA was extracted and PCR-RFLP was used to identify genotypes of the samples.Case-control analyses and transmission-disequilibrium test（TDT） were carried out.Results The frequency distribution of genotype among parents and control groups were consistent with HW balance.The frequency distribution of rs642961＇s AA genotype in clip group and clip lip with palate group were significantly higher than that in control group（P0.05）,but no significant difference in cleft palate（P=0.132）.the environmental factors including mother＇s passive smoking,mother＇s abortion history,and diseases during pregnancy,taking medicines during pregnancy,vitamin and folic supplement showed significant difference between 2 groups（P0.05）.Conclusion IRF6 gene polymorphism is associated with NSCL/P.The environmental factors show contribution to cleft lip and palate.

关 键 词：非综合征型唇腭裂 干扰素调节因子6 单核苷酸多态性 环境因素 

分 类 号：R782.21[医药卫生—口腔医学]