还原叶酸载体基因多态性与神经管畸形关联的父母-病例对照研究

裴丽君; 李智文; 任爱国; 张卫; 朱慧萍; 朱江辉; 郑晓颖; 杜宝芝; 刘育红; 肖燕萍; 魏子庚; 李竹

Abstract

裴丽君,李智文,任爱国,张卫,朱慧萍,朱江辉,郑晓颖,杜宝芝,刘育红,肖燕萍,魏子庚,李竹.还原叶酸载体基因多态性与神经管畸形关联的父母-病例对照研究[J].Chinese journal of Epidemiology,2005,26(9):665-668

还原叶酸载体基因多态性与神经管畸形关联的父母-病例对照研究

A parental case control study on the association between reduced folate carrier gene polymorphism and neural tube defects

Received:November 04, 2004

DOI：

KeyWord: 神经管畸形还原叶酸载体基因传递不平衡检验

English Key Word: Neural tube defects Reduced folate carrier gene Transmission/disequilibrium test

FundProject:国家重点基础研究专项基金(G1999055905)国家“十五”科技攻关课题资助项目(2002BA709B11)

Author Name	Affiliation
PEI Li-jun	nstitute of Reproductive and Child Health, National Reference Laboratory on Reproductive Health Research Ministry of Health, Peking University, Beijing 100083, China
LI Zhi-wen	nstitute of Reproductive and Child Health, National Reference Laboratory on Reproductive Health Research Ministry of Health, Peking University, Beijing 100083, China
REN Ai-guo	nstitute of Reproductive and Child Health, National Reference Laboratory on Reproductive Health Research Ministry of Health, Peking University, Beijing 100083, China
ZHANG Wei	nstitute of Reproductive and Child Health, National Reference Laboratory on Reproductive Health Research Ministry of Health, Peking University, Beijing 100083, China
ZHU Hui-ping	美国得克萨斯州农工大学环境与遗传医学中心生物科学技术研究所
ZHU Jiang-hui	nstitute of Reproductive and Child Health, National Reference Laboratory on Reproductive Health Research Ministry of Health, Peking University, Beijing 100083, China
ZHENG Xiao-ying	河北省唐山市丰润区妇幼保健院
DU Bao-zhi	河北省满城县妇幼保健院
LIU Yu-hong	河北省乐亭县妇幼保健院
XIAO Yan-ping	山西省太谷县妇幼保健院
WEI Zi-geng	河北省元氏县妇幼保健院
LI Zhu	nstitute of Reproductive and Child Health, National Reference Laboratory on Reproductive Health Research Ministry of Health, Peking University, Beijing 100083, China

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Abstract:

目的对神经管畸形(NTDs)发病危险和还原叶酸载体基因(RFC1)A80G多态性进行关联研究,为寻找NTDs的遗传易感标志物提供流行病学依据。方法采用RFLP-PCR方法,对104例NTDs儿及其父母和99名正常儿童及其父母的外周血DNA进行RFC1第80位SNP检测,对核心家庭基因型进行病例对照研究,对NTDs杂合子父母G等位基因进行传递不平衡检验(TDT)。结果 NTDs儿G等位基因频率高于对照儿,OR值为1.64(95%CI:1.08～2.49);GG基因型的患儿发生NTDs危险高于AA基因型(OR=2.56,95%CI:1.04～6.36);TDT结果显示,RFC1等位基因G 与NTDs之间存在关联(x2=5.2364,P<0.05),携带G等位基因发生NTDs的危险是非携带者的1.56倍(95%CI:1.07～2.28)。结论发现在中国人群中RFC1基因多态性与NTDs存在关联,初步表明该基因G等位基因可能是NTDs发生的遗传易感基因之一。

English Abstract:

Objective To study the association between reduced folate carrier gene(RFC1 A80G) polymorphism and the risk for child with neural tube defects (NTDs), and to provide epidemiological evidence for the existence of NTDs genetic marker. Methods RFCl (A80G) genotypes were detected using RFLP-PCR for blood DNA of 104 families with NTDs-affected children and 100 control families with no history of child-affected birth defects. Case-control study and transmission/disequiUbrium test(TDT) for the RFCl genotype of NTDs pedigree were carried out. Results The G allele frequency of children with NTDs was higher than that of controls when compared to A allele(OR = 1.64,95 % Cl ： 1.08-2 ? 49). The offspring of the GG genotype were associated with a 2.56-fold increased risk of NTDs when compared to the AA genotype (OR = 2.56, 95 % Cl ： 1 ? 04- 6.36) in our study population. There was evidence of association between G allele and the risk of parent having a child with NTDs(OR = 1. 56,95 % C7 ： 1.07?2.28) in the TDT analysis. Conclusion Our findings indicated that there was potential association between offspring RFCl GG genotype and the risk of NTDs, and the G allele was a possible susceptible gene marker for an increased NTDs risk in the Chinese population.

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