Polymorphism of methionine synthase gene in nuclear families of congenital heart disease / 生物医学与环境科学（英文）

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the relation of methionine synthase (MS) gene variation with congenital heart disease (CHD) phenotype.</p><p><b>METHODS</b>One hundred and ninety three CHD patients (94 males and 99 females) and their biological parents (nuclear families) in Liaoning Province were selected as the case group, and another 104 normal persons (60 males and 44 females) and their parents without family history of birth defects as the control group. For all subjects the polymorphism of MS gene A2756G locus was examined by PCR-RFLP method.</p><p><b>RESULTS</b>In offspring of the control group the frequencies of MS genotype (+/-) and allele (+) were 10.7% and 5.3%, without existence of homozygote. The MS genotype distribution and allele frequencies of CHD patients and their mothers were not significantly different from the control (P > 0.05). The frequency of allele (+) in case fathers (5.0%) was apparently lower than that in the control (9.1%, P = 0.060), and the odds ratio (OR) was 0.53 (95% CI 0.25-1.09). There was no difference in parents' genotype combination between the two groups, and in genotype distribution among different types of CHD. Analysis of genetic transmission indicated that mutation allele (+) existed transmission disequilibrium in CHD nuclear families. The percentage of allele (+) transmitted from parents was lower than that allele (-) with OR 0.26 (95% CI 0.11-0.60).</p><p><b>CONCLUSION</b>MS gene variation in parents is associated with occurrence of CHD in offspring, and mutation allele (+) in parents may be related with the decrease of CHD risk in offspring.</p>