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.

• Authors: Iwona Żak , Paweł Niemiec , Beata Sarecka , Anna Balcerzyk , Zbigniew Ciemniewski , Ewa Rudowska , Stanisław Dyląg
• Languages of publication: EN

Abstracts

EN

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.

Keywords

EN

angiotensin converting enzyme gene (ACE); coronary artery disease; methylenetetrahydrofolate reductase gene (MTHFR); polymorphisms

• Publisher: Polish Biochemical Society
• Journal: Acta Biochimica Polonica
• Year: 2003
• Volume: 50
• Issue: 2
• Pages: 527-534

Dates

published

2003

received

2002-12-18

revised

2003-05-12

accepted

2003-05-21

Contributors

author

Iwona Żak

• Department of Biochemistry and Medical Genetics, Medical University of Silesia, Katowice, Poland

author

Paweł Niemiec

• Department of Biochemistry and Medical Genetics, Medical University of Silesia, Katowice, Poland

author

Beata Sarecka

• Department of Biochemistry and Medical Genetics, Medical University of Silesia, Katowice, Poland

author

Anna Balcerzyk

• Department of Biochemistry and Medical Genetics, Medical University of Silesia, Katowice, Poland

author

Zbigniew Ciemniewski

• The First Department and Clinic of Cardiology, Medical University of Silesia, Katowice, Poland

author

Ewa Rudowska

• Regional Blood Centre, Katowice, Poland

author

Stanisław Dyląg

• Regional Blood Centre, Katowice, Poland

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