MTHFR C677T gene polymorphism and the severity of coronary lesions in acute coronary syndrome

Abstract

The association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism, circulating levels of homocysteine (Hcy), and the severity of coronary lesion in patients with acute coronary syndrome (ACS) remains unknown.Consecutive ACS patients were included. MTHFR C677T polymorphisms were determined via amplification refractory mutation system-polymerase chain reaction (ARMS-PCR). Gensini scores were used to evaluate the severity of coronary lesions.Three hundred ten ACS patients were included, and grouped according to the MTHFR C677T polymorphism variant: CC (n = 78, 25.2%), CT (n = 137, 44.2%), and TT (n = 95, 30.6%) groups. No significant differences were detected with respect to baseline characteristics. Patients in TT group had significantly higher Hcy, and significantly lower folic acid (FA) levels as compared with those in the other 2 groups (P < .05 for both). More importantly, patients with TT had more severe coronary lesions as compared with those from the other 2 groups, as evidenced by higher Gensini scores (P < .05 for both); however, no significant differences were observed with respect to the numbers of affected coronary arteries, or the number, length, and diameter of stents implanted in each group (P > .05 for all). On multivariate logistic regression analysis, presence of a T allele in MTHFR C677T was found to be independently associated with higher circulating Hcy (odds ratio [OR] = 1.06, 95% confidence interval [CI]: 1.01–1.12, P = .024), and higher Gensini scores (OR: 1.01, 95% CI: 1.00–1.02, P = .046).MTHFR C677T TT polymorphism was associated with higher Hcy levels and more severe coronary lesions in patients with ACS.

A Case-Control Study of the Association of the Polymorphisms of <b><i>MTHFR</i></b> and <b><i>APOE</i></b> with Risk Factors and the Severity of Coronary Artery Disease

“…The fact that homozygous TT for MTHFR C677T produced the enzyme with the least activity when compared with heterozygous CT and wild-type CC ,thereby leading to elevated level of serum Hcy,could be the reason for this. These results were in agreement with previous studies [21]. In one particular study, however, no significant association was found between MTHFR C677T and CAD severity [22].…”

“…Mutations of C677T and A1298C in the MTHFR gene result in the production of a thermolable enzyme with reduced activity.Homozygous mutations of these sites induce an approximately 70 and 40% decrease of the normal enzyme activity, respectively, which is responsible for the occurrence of hyperhomocystinemia [6]. Numerous studies have proved the relationship between MTHFR mutation and hyperhomocystinemia [21, 25, 27-29]. …”

“…Therefore, hyperhomocysteinemia is considered another risk factor for atherosclerosis [12-14]. Recent reports indicate that the single-nucleotide polymorphisms (SNPs) of MTHFR and APOE are associated with the risk of CAD, but the results are conflicting [15-21]. …”

“…Several SNPs in MTHFR and APOE have been reported to be involved in CAD, but the conclusions of these studies remain controversial [15-21]. More importantly, whether these SNPs correlate with the severity of CAD was not completely clarified [21, 22]. Therefore, we conducted a case-control study to explore these aspects in a Chinese Han population.…”

The influence of MTHFR C677T polymorphism in chronic lymphocytic leukemia

“…Reports have demonstrated that MTHFR C677T polymorphism is associated with other pathologies . On the other hand, there is no consensus on the effect of this polymorphism in the susceptibility to CLL .…”