title: 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.
abstract: 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.
authors.affiliation: Department of Biochemistry and Medical Genetics, Medical University of Silesia, Medyków 18, 40-752 Katowice, Poland. izak@slam.katowice.pl
authors.forename: Iwona
authors.initials: I
authors.lastname: Zak
authors.forename: Paweł
authors.initials: P
authors.lastname: Niemiec
authors.forename: Beata
authors.initials: B
authors.lastname: Sarecka
authors.forename: Anna
authors.initials: A
authors.lastname: Balcerzyk
authors.forename: Zbigniew
authors.initials: Z
authors.lastname: Ciemniewski
authors.forename: Ewa
authors.initials: E
authors.lastname: Rudowska
authors.forename: Stanisław
authors.initials: S
authors.lastname: Dylag
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D002648:Child; D003324:Coronary Artery Disease / Q000201:enzymology / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D009203:Myocardial Infarction / Q000235:genetics; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D017354:Point Mutation; D011110:Polymorphism, Genetic / Q000235:genetics; D012307:Risk Factors; D017384:Sequence Deletion
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2); D007703:Peptidyl-Dipeptidase A