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Correlation of polymorphism of MTHFRs and RFC-1 genes with neural tube defects in China

✍ Scribed by Yali Shang; Hong Zhao; Bo Niu; Wan-I Li; Ran Zhou; Ting Zhang; Jun Xie

Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
92 KB
Volume
82
Category
Article
ISSN
1542-0752

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✦ Synopsis

Abstract

BACKGROUND:

Maternal periconceptional supplementation of folate reduces the incidence of neonatal Neural Tube Defects, indicating that changes in folate metabolism play a role in formation of NTDs. The mutations on two genes involved in folate metabolism, the C677 of the MTHFR gene and the RFC‐1(A80G) gene are potential risk factors of NTDs.

METHODS:

In this study, we analyzed the genotypic distributions and allele frequencies of MTHFR C677T and RFC‐1 A80G polymorphisms in DNA samples from mothers with at least one previous child with NTDs (the NTD group) and controls.

RESULTS:

Our results indicated that there was a significant difference in the genotype and allele frequencies of RFC‐1 80Aβ†’G between the NTD group and controls (p = .008 and p = .017, respectively). There was, however, no significant difference in the genotype and allele frequencies of the MTHFR 677Cβ†’T polymorphism between the NTD group and controls. The NTD group was further separated into the upper and lower types by location of abnormalities. The frequency of RFC‐1 80A/G and 80G/G was significantly higher in the upper group than the control (p = .009 and p = .005, respectively). The frequency of G‐alleles was also significantly higher in the upper group than the control (OR 2.42; p = .006; 95% CI: 1.28–4.58). For the MTHFR C677 gene, the frequency of T‐alleles was significantly lower in the lower defect type than the control group (OR 0.32; p = .027; 95% CI: 0.11–0.9).

CONCLUSIONS:

These results suggest that in the Shanxi population RFC‐1 polymorphisms may play a role in NTD risk, whereas the impact of MTHFR C677T polymorphisms requires further clarification. Birth Defects Research (Part A) 2008. Β© 2007 Wiley‐Liss, Inc.

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