MTHFR基因C677T多态性与非综合征型唇腭裂的相关性研究  

Relationship between genetic polymorphisms of MTHFR C677T and nonsymdromic cleft lip with or without palate

作　　者：郭晋臻[1] 宋晓明[1] 汪云[1] 朱文丽[1] 李书琴[2] 李勇[1] 

机构地区：[1]北京大学公共卫生学院营养与食品卫生学系,北京100191 [2]中国医科大学盛京医院

出　　处：《北京大学学报（医学版）》2009年第4期432-436,共5页Journal of Peking University:Health Sciences

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

摘　　要：目的:探讨MTHFR基因C677T多态性与非综合征型唇腭裂(nonsyndromic cleft lip with or without cleft pa-late,NSCL/P)相关性。方法:收集97个核心家庭和104个对照家庭,用聚合酶链式反应-限制性片段长度多态性方法,进行MTHFR基因C677T位点多态性检测;用人群关联研究、传递不平衡检验(transmission-disequlibrium test,TDT)、单倍型相对风险率(haplotype-based haplotype relative risk,HHRR)、家系为基础的关联检验(family-basedas-sociation test,FBAT)等进行统计分析。结果:人群关联研究分析表明,子代、父亲、母亲的病例组和对照组之间基因型和等位基因的分布差异无统计学意义(P>0.05);子代、父亲、母亲组,CT基因型携带者相对于CC基因型携带者的OR分别为1.02(95%CI0.47～2.21)、0.62(95%CI0.29～1.32)、0.66(95%CI0.31～1.40);TT基因型携带者相对于CC基因型携带者的OR分别为1.10(95%CI0.44～2.74)、0.95(95%CI0.39～2.32)、0.68(95%CI0.28～1.66);T相对于C基因的OR分别为1.07(95%CI0.72～1.58)、0.98(95%CI0.66～1.46)、0.83(95%CI0.56～1.24)。携带有突变基因T并不能增加患NSCL/P的危险。病例组核心家庭分析表明,TDT检验χ2=1.817,P>0.05;HHRR检验χ2=1.76,P>0.05;FBAT检验Z=1.348,P>0.05。结论:没有发现MTHFRC677T多态性和NSCLP无关联性,该基因位点的变异可能不会导致中国东北地区人群NSCLP的发生。Objective： To explore the relationship between genetic polymorphisms of MTHFR C677T and nonsymdromic cleft lip with or without palate in Chinese population. Methods： There were 97 NSCL/P case-parent triads that were selected as case group. At the same period, 104 healthy subjects were selected together with their biological parents as control group. For all the subjects the polymorphism of MTHFR C677T was examined by PCR-RFLP method. Results： There was no statistical difference in genotype and gene frequencies for MTHFR C677T variants among family members between case group and control group in the offspring , fathers and mothers. The odds ratio （OR） between heterozygotes （CT） versus wild homozygotes （CC） were 1.02（95% CIO. 47 -2.21 ）, 0. 62（95% CIO. 29 - 1.32） and 0. 66 （95 % CI 0. 31 - 1.40） in the offspring, fathers and mothers, respectively. The OR between mutant homozygotes（TT） versus wild homozygotes （CC） were 1.10（95% CIO. 44 -2.74） ,0.95（95% CIO. 39 - 2.32） and 0. 68（95% CI O. 28 - 1.66） in the offspring, fathers and mothers, respectively. The OR be- tween allele （T） versus allele （C） were 1.07 （95 % CI O. 72 - 1.58 ）, 0. 98 （95 % CI O. 66 - 1.46） and 0. 83（95% CI O. 56 -1.24） in the offspring, fathers and mothers, respectively. T allele could not increase the risk of NSCL/P. For the MTHFR gene C677T variant, transmission disequilibrium test （TDT） analysis yielded no evidence of linkage in the presence of disequilibrium （χ^2 = 1. 817, P 〉 0. 05 ）. Results of haplotype-based haplotype relative risk （ HHRR ） analysis （ χ^2 = 1.76, P 〉 0. 05 ） and familybased association tests （FBAT） （ Z = 1. 348, P 〉 0. 05 ） also showed that there was no association between MTHFR C677T variant and the risk of NSCL/P . Conclusion： No association between genetic polymorphism of MTHFR C677T and NSCLP was observed. Our findings suggest that the MTHFR gene variations C677T do not contribute to the development of NSCLP in Chine

关 键 词：唇裂 四氢叶酸脱氢酶 多态现象 遗传 腭裂 

分 类 号：R782.21[医药卫生—口腔医学]