[一项关于叶酸转运体基因多态性降低与神经管缺陷关联的病例对照研究]

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

作者信息

Pei Li-jun, Li Zhi-wen, Ren Ai-guo, Zhang Wei, Zhu Hui-ping, Zhu Jiang-hui, Zheng Xiao-ying, Du Bao-zhi, Liu Yu-hong, Xiao Yan-ping, Wei Zi-geng, Li Zhu

机构信息

Institute of Reproductive and Child Health, National Reference Laboratory on Reproductive Health Research Ministry of Health, Peking University, Beijing 100083, China.

出版信息

Zhonghua Liu Xing Bing Xue Za Zhi. 2005 Sep;26(9):665-8.

PMID:16471213

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

RFC1 (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/disequilibrium test(TDT) for the RFC1 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% CI :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% CI: 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% CI: 1.07-2.28) in the TDT analysis.

CONCLUSION

Our findings indicated that there was potential association between offspring RFC1 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.

摘要

目的

研究叶酸盐转运蛋白基因（RFC1 A80G）多态性与神经管缺陷（NTDs）患儿发病风险的关系，为NTDs遗传标志物的存在提供流行病学依据。

方法

采用RFLP-PCR方法检测104例有NTDs患儿家庭及100例无出生缺陷患儿家庭的血DNA中RFC1（A80G）基因型。对NTDs家系的RFC1基因型进行病例对照研究及传递不平衡检验（TDT）。

结果

与A等位基因相比，NTDs患儿中G等位基因频率高于对照组（OR = 1.64，95%CI：1.08 - 2.49）。在本研究人群中，与AA基因型相比，GG基因型后代患NTDs的风险增加2.56倍（OR = 2.56，95%CI：1.04 - 6.36）。TDT分析显示，G等位基因与父母生育NTDs患儿的风险之间存在关联（OR = 1.56，95%CI：1.07 - 2.28）。