亚甲基四氢叶酸还原酶C677T多态性与非综合征性唇腭裂的关系被引量：10

Association of methylenetetrahydrofolate reductase C677T polymorphisms with non-syndromic cleft lip with or without cleft palate

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摘要目的研究亚甲基四氢叶酸还原酶基因C677T多态性与非综合征性唇腭裂的关系。方法利用聚合酶链反应-限制性片段长度多态性方法(PCR-RFLP),在168例非综合征性唇腭裂患者和192名正常对照中,对MTHFR基因C677T单核苷酸多态性(SNP,rs1801133)进行检测。利用拟合优度卡方检验,分析基因型分布频率是否符合Hardy-Weinberg平衡定律;应用UNPHASED软件包分析多态性位点与非综合征性唇腭裂的相关性。结果MTHFR C677T多态性基因型频率分布符合Hardy-Weinberg平衡;MTHFR C677T等位基因分布在NSCL/P组与对照组之间有显著性差异(P<0.05),正常组中T等位基因的频率明显高于NSCL/P组。结论MTHFR C677T多态性位点在中国人群中与非综合征性唇腭裂形成的发生相关联。 Objective To investigate the association of methylenetetrahydrofolate reductase polymorphisms with non-syndromic cleft lip with or without cleft palate （NSCL/P） Chinese population. Methods Genotyping of rs1801133 was conducted by PCR-based restriction fragment length polymorphism （RFLP） analysis in both 168 patients and the 192 controls. The X2 goodness-of-fit test was applied to test whether or not the genotypic distributions of rs1801133 would be in Hardy-Weinberg equilibrium. The UNPHASED program was used to perform X2 test for the associations. Results The genotypic distribution of C677T was not deviated from the Hardy-Weinberg equilibrium. The allele frequencies were significantly different between patients with NSCL/P and healthy individuals（P〈0.05）. The frequency of T alleles in the patients was lower than that of C alleles compared with the healthy individuals. Conclusion The polymorphism of MTHFR C677T is associated with NSCL/P Chinese population and may play a role in the occurrence of this disease.

作者李点典胡颖南欣荣陈仁吉

机构地区山西医科大学第一医院首都医科大学附属北京口腔医院

出处《北京口腔医学》 CAS 2009年第1期16-19,共4页 Beijing Journal of Stomatology

基金国家自然科学基金青年基金(No.30700907) 北京市自然科学基金(No.7082038)

关键词亚甲基四氢叶酸还原酶基因多态性非综合征性唇腭裂 Methylenetetrahydrofolate reductasc gene Polymorphisms NSCL/P

分类号 R782 [医药卫生—口腔医学]

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参考文献17

1Cooper ME, Stone RA, Liu Y, et al. Descriptive epidemiology of nonsyndromie cleft lip with or without cleft palate in Shanghai, China,from 1980 to 1989. Cleft Palate-Craniofacial Journal, 2000,37 ( 3 ) : 274 -280.
2Weisberg I, Tran P, Christensen B, et al. A second genetic polymorphism in methylenetetrahydrofolate reductase associated with decreased enzyme activity. Mol Genet Metab, 1998,64 (3) : 169-172.
3Dudbridge F. Likelihood-based association analysis for nuclear families and unrelated subjects with missing genotype data. Human Heredity ,2008,66(2) :87-98.
4Prescott NJ, Winter RM, Malcolm S. Maternal MTHFR genotype contributes to the risk of non-syndromic cleft lip and palate. J Med Genet,2002,39(5) : 368-369.
5王丽君,万伟东,黄金龙.中国人群非综合征性唇腭裂与MTHFR基因C677T多态性[J].江苏医药,2006,32(8):701-702. 被引量：6
6Boyles AL, Wilcox AJ, Taylor JA, et al. Folate and One-Carbon Metabolism Gene Polymorphisms and Their Associations With Oral Facial Clefts. Am J Med Genet A,2008,146 A (4) : 440-449.
7Le Marchand L, Donlon T, Hankin JH, et al. B-vitamin intake, metabolic genes, and colorectal cancer risk ( United States). Cancer Causes Control, 2002,13 ( 3 ) : 239 -248.
8Le Marchand L, Wilkens LR, Kolonel LN, et al. The MTHFR C677T polymorphism and colorectal cancer: The multiethnic cohort study. Cancer Epidemiol Biomarkers Prev,2005,14 (5) :1198-1203.
9Ulvik A, Vollset SE, Hansen S, et al. Colorectal cancer and the reductase 677C -> T and methionine synthase 2756A - > G polymorphisms : A study of 2,168 case-control pairs from the JANUS cohort Cancer. Epidemiol Biomarkers Prev, 2004,13 (12) :2175-2180.
10Jiang Q, Chen K, Ma X, et al. Diets, polymorphisms of methylenetetrahydrofolate reductase, and the susceptibility of colon cancer and rectal cancer. Cancer Detect Prev,2005,29 (2) : 146-154.

二级参考文献3

1Kanno K,Suzuki Y,Yang X.Lack of evidence for a significant association between nonsyndromic cleft lip with or without cleft palate and the retinoic acid receptor aicd alpha gene in the Japanese population.J Hum Genet,2002,47:269-274.
2Tolarova MM,Van Rooij IALM,Pator M,et al.A common mutation in the MTHFR gene is a risk factor for nonsyndromic cleft lip and palate anomalies.Am J Hum Genet,1998,63:A27.
3Bueno MR,Andre M,Steman S.Role of the C67 7T polymorphim atthe MTHFR gene on risk to nonsyndromic cleft lip with/without cleft palate:results from a case-control study in brazil.Am J Med Genet,1999,87:197-199.