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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.

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The angiotensin converting enzyme gene I/D polymorphism in Polish rowers

84%

Jastrzebski Z., Leonska-Duniec A., Kolbowicz M., Tomiak T.

Central European Journal of Sport Sciences and Medicine

2014

tom 05

nr 1

Angiotensin converting enzyme gene (ACE) is the most frequently investigated genetic marker in the context of genetic conditioning of athletic predispositions. The product of the gene is a key component of the renin-angiotensin system (RAS) and the kallikrein-kinin system (KKS), mainly responsible for the regulation of blood pressure. The main aim of the study was to determine the possible interaction between the ACE l/D polymorphism and endurance athlete status in a group of Polish rowers in comparison with sedentary individuals. 121 male Polish rowers, members of academic sports clubs, and 115 unrelated volunteers, were recruited for the study. The PCR amplification of the insertion (I) or deletion (D) fragment of the ACEgene was performed. Compared with control group, the frequency of the I allele differ significantly from that found in rowers (57.4% vs. 44.3%; P = 0.013) and the ACE genotype frequency amongst the whole cohort of rowers (30.6% II, 53.7% ID, 15.7% DD) was also different from expected values (control group 19.1% II, 50.4% ID, 30.4% DD; P=0.017). Our investigation confirms a positive association of the I allele of the ACE gene with endurance athlete status in a group of Polish rowers.

Ograniczanie wyników

1 Acta Biochimica Polonica

1 Central European Journal of Sport Sciences and Medicine

1 Balcerzyk A.

1 Ciemniewski Z.

1 Dylag S.

1 Jastrzebski Z.

1 Kolbowicz M.

1 Leonska-Duniec A.

1 Niemiec P.

1 Rudowska E.

1 Sarecka B.

1 Tomiak T.

1 Zak I.

1 2014

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

The angiotensin converting enzyme gene I/D polymorphism in Polish rowers