Genetic Polymorphism Of Methylenetetrahydrofolate Reductase And Homocysteine In Young Adults With Cerebrovascular Disease

Objective to investigate the relationships of polymorphisms of MTHFR and plasma homocysteine (Hey ) levels with cerebrovascular disease in young adults. Methods This case -control study was based on 40 consecutive patients(28 males ,12 females ;mean@SD age,42.3@7.7 years;range,20years to 50 years) of young adult cerebrovascular disease (age at first event, = 50 years). 32 age- and sex -matched apparently healthy subjects(17males,15 femals;mean@SD age,39.3@6.8years) served as controls. Their polymorphisms of MTHFR gene were analyzed using PCR-RFLP and their fasting plasma total homocysteine(tHcy)levels were measured using FPIA.In addition,serum folate and vitamin B12 of all the subjects were detected . Results There are three kinds of MTHFR genotype :T/T (homozygous mutation),C/T(heterozygous mutation) and C/C(wiId type).The frequencies of the three genotype were as follows:T/T,22.5%; C/T,57.5%;C/C,20.0%;TT allele 51.3% in patients and T/T ,37.5%;C/T,46.9%;C/C ,15.6%;TT allele 60.9% in control subjects,respectively.There was no significant difference between patients and control subjects in either TT genotype frequency (22.5% versus 37.5%;p > 0.05) or T allele frequency (0.513 versus 0.609;centile). Mean total fasting plasma homocysteine concentrations were significantly higher in patients than in the normal subjects ( 11.0umol/Lversus 8.0umol/L, P< 0.05) .There is a positive association between the homozygous(T/T) mutation and elevated fasting plasma homocysteine levels,mainly among those with low serum folate. In addition,plasm homocysteine level was inversely related to serum folate and vitamin B12 concentrations whereas positively related to serum creatinine and smoking. Conclusions In this population,MTHFR polymorphism is positively associated with higher homocysteine levels mainly among those with low serum folate level but not with risk of cerebrovascular diseases in young adult .Elevated plasm homocysteine is strongly associated with an increased prevalence of young cerebrovascular disease .The frequency of homozygous(T/T) mutation in MTHFR genotype is higher in Qingdao population than in others of Asia and Caucasians .In addition to gene mutation, plasm homocysteine level is inversely related to serum folate and vitamin B12 concentrations whereas positively related to serum creatinine and smoking.Postgraduate: Xingyan ( Neurology ) Directed by-Associate Professor Pan Xudong...