Relationship between independent risk factor of ischemic cerebrovascular disease in youth and genic mutation of methylene tetrahydrofolate reductase

Guangxian NAN; Mingji CUI; Songyan LIU

ABSTRACT

BACKGROUND:

The increase of concentration of plasma homocysteine is the independent risk factor of atherosclerotic and thrombotic cerebral infarction. Genic mutation of methylene tetrahydrofolate reductase (MTHFR), which is the metabolic enzyme of homocysteine in thansulfuration and remethylation,can induce the elevation of the concentration of plasma homocysteine.

OBJECTIVE:

To explore the relationship of hyperhomocysteinemia and genic mutation of MTHFR of homocysteine with ischemic cerebrovascular disease in youths.

DESIGN:

Case-control observation,

SETTING:

Department of Neurology, China-Japan Friendship Hospital,Jilin University

PARTICIPANTS:

100 young patients with cerebral infarction, who were hospitalized within 2 days after episode at the Department of Neurology,China-Japan Union Hospital, Jilin University between April 2003 and December 2004, were enrolled as case group, 73 males and 27 females, aged 27-45 years old with an average of (42±5) years. 100 cases in control group were healthy people receiving health examination in the same period, 70 males and 30 females, aged 18-45 years old with an average of (39±4) years.

METHODS:

The homocysteine in fasting plasma of testees was detected with high performance liquid chromatograpy (HPLC). C677T site and A1298C site of MTHFR gene were analyzed with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and detected with armplification refractory mutation system (ARMS).MAIN OUTCOME

MEASURES:

Detection of MTHFR C677T and A1298C gene; Relationship between concentration of plasma homocysteine and MTHFR genotype.

RESULTS:

A total of 100 inclusive patients and 100 normal control people were involved in the result analysis. ①Detection of MTHFR C677Tand A1298C gene Distribution of genotype, frequency of homozygote and frequency of allele of MTHFR C677T in the case group and control group had significant difference (P ＜ 0.01 ) while the distribution of genotype,frequency of homozygote and frequency of allele of MTHFR A1298C gene in the case group and control group had insignificant difference (P ＞ 0.05 ). ②Relationship between the concentration of plasma homocysteine and MTHFR genotype The concentration of plasma homocysteine between MTHFR C677T and A1298C genotype had significant difference (P＜ 0.001 ). The mutant result LSD-t check of the 2 sites showed that mean difference of homozygote and heterozygote, homozygote and concentration of wild type homocysteine had statistical significance (P ＜ 0.05). The mean difference of MTHFR C677T and A1298C heterozygote and concentration of wild type homocysteine in plasma had no statistical significance (P＞ 0.05 ).

CONCLUSION:

The mutation of MTHFR C677T and A1298C leads to the marked increase in the concentration of plasma homocysteine. The MTHFR C677T polymorphism site is the independent risk factor of is chemic cerebrovascular disease in youths. The genic mutation of MTHFR A 1298C has no correlation with the attack of ischemic cerebrovascular disease of youths.