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Carrier-state of D allele in ACE gene insertion deletion polymorphism is associated with coronary artery disease, in contrast to the C677-T transition in the MTHFR gene

100%

Zak I., Niemiec P., Sarecka B., Balcerzyk A., Ciemniewski Z., Rudowska E., Dylag S.

Acta Biochimica Polonica

2003

tom 50

nr 2

Angiotensin I-converting enzyme (ACE), which plays an important role in blood pressure regulation, and methylenetetrahydrofolate reductase (MTHFR) involved in homocysteine metabolism belong to a large group of polypeptides which may be potential risk factors for atherosclerosis and coronary artery disease (CAD). To assess whether polymorphisms of the genes encoding these peptides are associated with CAD in Silesian we conducted a study among 68 individuals suffering from CAD (including 52 cases after myocardial infarction), 51 subjects with positive family history of CAD and 111 controls. We analysed the distribution of genotypes and allele frequencies of the insertion/deletion (I/D) polymorphism in the ACE gene using PCR amplification, and the C677^T polymorphism in the MTHFR gene using PCR-RFLP analysis. We found that D allele frequency was significantly higher in CAD patients (61%) than in controls (43%) (P = 0.001, OR = 2.06). The D allele carriers (DD + ID genotypes) were more frequent in the CAD patients (85%) compared to control group (65%) (P = 0.003, OR = 3.14), whereas the familial CAD risk group shows the highest frequency of the ID genotype (57% vs 43% in controls). In contrast, the MTHFR polymorphism does not seem to be associated with the disease. Our data indicate that in Silesian CAD patients the disease is strongly associated with carrier-state of the ACE D allele, but not with the C677->T transition in the MTHFR gene.

C677T polymorphism of the methylenetetrahydrofolate reductase gene and the risk of ischemic stroke in Polish subjects

84%

Goracy I., Cyrylowski L., Kaczmarczyk M., Fabian A., Koziarska D., Goracy J., Ciechanowicz A.

Journal of Applied Genetics

2009

tom 50

nr 1

63-67

Hyperhomocysteinemia is reported to be an independent risk factor for the development of ischemic stroke. Several studies on genetic variants of methylenetetrahydrofolate reductase (MTHFR, which plays a crucial role in regulation of plasma homocysteine concentration) reported an association between C677T gene polymorphism and stroke in some Asian populations. No study but one detected this association in Caucasians. The purpose of the present case-control study was to find a relationship between MTHFR genotypes and stroke in a Polish population. MTHFR genotypes were determined by PCR in 152 patients with ischemic stroke from northwestern Poland and in 135 consecutive newborns from the same population. The TT genotype and the T allele were significantly more frequent in patients than in the control group (11.8% vs. 4.4%, and 34.5% vs. 21.5%, P < 0.01). When males and females were analyzed separately, the differences were statistically significant in both genders. It is concluded that presence of the T allele is a risk factor for ischemic stroke in Polish subjects.

Ograniczanie wyników

1 Acta Biochimica Polonica

1 Journal of Applied Genetics

1 Balcerzyk A.

1 Ciechanowicz A.

1 Ciemniewski Z.

1 Cyrylowski L.

1 Dylag S.

1 Fabian A.

1 Goracy I.

1 Goracy J.

1 Kaczmarczyk M.

1 Koziarska D.

1 Niemiec P.

1 Rudowska E.

1 Sarecka B.

1 Zak I.

1 2009

1 2003

Wyniki wyszukiwania

Carrier-state of D allele in ACE gene insertion deletion polymorphism is associated with coronary artery disease, in contrast to the C677-T transition in the MTHFR gene

C677T polymorphism of the methylenetetrahydrofolate reductase gene and the risk of ischemic stroke in Polish subjects