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  • Title: [The relationship between polymorphism of gene involved in folate metabolism, homocysteine level and risk of Down syndrome].
    Author: Wang W, Xie W, Wang Xy.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Oct; 24(5):533-7. PubMed ID: 17922421.
    Abstract:
    OBJECTIVE: To investigate whether the polymorphism in methylenetetrahydrofolate reductase (MTHFR) gene involved in folate metabolism is associated with Down syndrome (DS). METHODS: One hundred Chinese mothers who gave birth to babies with DS and 100 control mothers were chosen. Genotype of MTHFR 677 was determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and concentration of plasma homocysteine (HCY) was measured by chemiluminescence. RESULTS: The MTHFR 677T allele frequency was significantly different among case mothers, compared with control mothers (P=0.002); the odds ratio for the heterozygous CT genotype was 2.12 (95%CI: 1.14-3.94), whereas for the homozygous TT genotype, the odds ratio was 3.43 (95%CI:1.41-8.36). The mean plasma HCY concentration [(9.04 +/- 3.85) mu mol/L] of cases was significantly different from that of controls [(6.53 +/- 2.06) mu mol/L](P <0.01). The presence of the 677C>T substitution in one or both alleles was associated with increased plasma HCY both in case mothers and control mothers (P < 0.01). Interestingly, although both being MTHFR 677CC, the plasma HCY concentrations were higher in case mothers than in control mothers, the increase was not dependent on MTHFR genotype (P < 0.01). CONCLUSION: Our results provide evidences that plasma HCY and genetic polymorphism in gene of folate pathway are risk factors for mothers to have a DS child in China.
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