The relationship between polymorphism of gene involved in folate metabolism, homocysteine level and risk of Down syndrome / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate whether the polymorphism in methylenetetrahydrofolate reductase (MTHFR) gene involved in folate metabolism is associated with Down syndrome (DS).</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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%CI1.41-8.36). 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).</p><p><b>CONCLUSION</b>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.</p>