IRF6基因rs2235371位点多态性与非综合征性唇裂伴或不伴腭裂的相关性研究  

Association between polymorphism of IRF6 rs2235371 locus and nonsyndromic cleft lip with or without cleft palate

作　　者：李梦洁[1,2] 朱文丽[1] 汪云[1] 郭晋臻[1] 李书琴[3] 李勇[1] 

机构地区：[1]北京大学医学部公共卫生学院营养与食品卫生学系,100191 [2]北京大学医学部公共卫生学院教育部流行病学重点实验室100191 [3]中国医科大学盛京医院

出　　处：《中华医学遗传学杂志》2012年第2期149-154,共6页Chinese Journal of Medical Genetics

基　　金：基金项目：国家自然科学基金（30600676）;教育部新世纪优秀人才支持计划（NCET-07-0034）

摘　　要：目的探讨干扰素调节因子6（interferonregulatoryfactor6，IRF6）基因rs2235371位点820G〉A单核苷酸多态性与非综合征性唇裂伴或不伴腭裂（nonsyndromiccleftlipwithorwithoutcleftpalate，NSCL±P）的相关性。方法收集106例患者及其父母以及129名对照及其父母的核心家庭标本，用聚合酶链反应-限制性片段长度多态性的方法进行IRF6基因rs2235371位点单核苷酸多态性检测；用人群关联研究、传递不平衡检验（transmissiondisequilibriumtest，TDT）、单倍型相对风险率（haplotype—basedhaplotyperelativerisk，HHRR）、家系为基础的关联检验（family—basedassociationtests，FBAT）等方法进行统计分析。结果病例组与对照组相比，子代的基因型分布差异无统计学意义（P〉0．05），而等位基因频率比较差异有统计学意义（P〈0．05）；母亲组基因型分布差异有统计学意义（P〈0．05）；按唇腭裂类型分类后，单纯唇裂组子代基因型分布和等位基因的频率与对照组相比差异均有统计学意义（P〈0．05）；而唇腭裂组基因型分布和等位基因频率差异均无统计学意义（P〉0．05）。传递不平衡检验提示，rs2235371位点的G等位基因在NSCL±P核心家庭中存在传递不平衡（χ^2=5．56，P=0．024）。HHRR检验χ^2=5．115，P=0．024，OR=1．674，95％CI：1．069～2．621；FBAT检验Z=2．218，P=0．027。结论在中国北方人群中IRF6基因rs2235371位点突变与非综合征性唇腭裂存在关联。Objective To assess the association between polymorphism of interferon regulatory factor 6 （IRF6） gene rs2235371 locus and nonsyndromic cleft lip with or without cleft palate （NSCL± P） in Chinese population. Methods Blood samples from 106 patients and their parents and 129 controls and their parents were collected. The polymorphism of IRF6 rs2235371 locus was determined with PCR-restriction fragment length polymorphism（PCR-RFLP） method. Case-control analysis, transmission-disequilibrium test （TDT）, haplotype-based haplotype relative risk analysis（HHRR） and family-based association test （FBAT） were carried out. Results By case-control analysis, no significant difference was found in the frequencies of GG, GA and AA genotypes of rs2235371 locus between the patient group and control group （P〉0.05）, but there was a significant difference in allelic frequencies （P〈0.05）. There was also a significant difference in genotype and gene frequencies of rs2235371 variant between family members from cleft lip only group and control group. However, in cleft lip with cleft palate group, no such difference was observed. TDT analysis suggested a linkage in the presence of disequilibrium （χ^2= 5.56, P= 0. 024）. Results of HHRR analysis （χ^2=5. 115, P=0. 024） and FBAT （Z=2. 218, P=0. 027） also indicated an association between IRF6 rs2235371 variant and the risk of NSCL!P. Conclusion Genetic polymorphism of IRF6 gene rs2235371 locus is associated with NSCL±P.

关 键 词：非综合征性唇裂伴或不伴腭裂 干扰素调节因子6基因 单核苷酸多态性 关联分析 

分 类 号：R782.2[医药卫生—口腔医学]