PRELIMINARY STUDY ON MATERNAL HOMOCYSTEINE, FOLIC ACID, MTHFR
GENE POLYMORPHISM AND CONGENITAL HEART DEFECTS IN OFFSPRING
Liu H, Ye H-M, Li S, Han L, M Zh-H, Zhu H-P
Department
of Pediatrics, Third Hospital, Peking University, China
Objective: To explore
the relationship between maternal
homocysteine, (HCY) ,folic acid , 5，10-methylenetetrahydrofolate reductase (MTHFR) genotypes(677C→T) and occurrence of congenital
heart disease (CHD) in offspring.
Methods: HPLC
technique was used to measure the level of total plasma HCY in 32 mothers
of CHD children and 23 mothers of normal children, radio-immunoassay was
used to measure folic acid and MTHFR genotypes were detected by PCR-RELP
analysis.
Results: The incidence
of hyperhomocysteinemia (Hhe) (34.38%; 11 cases) in CHD maternal group was
significantly higher than that
in normal maternal group (0, P=0.0014).
The folic acid level of CHD maternal group was significantly lower than
that of normal maternal group (4.87±3.60ng/ml vs 6.80±2.16ng/ml,
P<0.05).There was no
significant difference between this two groups on prevalence of homozygous MTHFR mutation (677C→T).
Conclusions:
There are associations between maternal HCY ，folic acid and offspring’s CHD.
Maternal hyperhomcysteinemia maybe involve in the pathogenesis of CHD in
offsprings. The prevention effect of folic acid would be through the
correction of maternal HCY. Homozygous mutation of MTHFR(677C→T) in mother does not appear to
be involved in offspring’s CHD. This study suggested that women of
childbearing age should
increase folic acid intake to prevent NTDs and CHD.