Angiotension-converting enzyme gene I/D polymorphism in patients with angina and normal coronary arteriograms.
ABSTRACT A polymorphism of the human angiotensin-converting enzyme (ACE) gene has been identified in which the insertion (I) rather than the deletion (D) variant is associated with lower circulating and tissue ACE activity. ACE I allele is associated with resistance and endurance performance. Skeletal muscle metabolic efficiency is reduced in patients with heart failure and is improved by ACE inhibition. Profound muscle fatigue is a predominant and debilitating symptom in a proportion or patients with angina and normal coronary arteriograms (ANCA), and we postulated that the gene D allele might be associated with the presence of fatigue in ANCA patients. We studied 33 consecutive patients with typical ANCA who completed a validated fatigue questionnaire, and found an excess of the D allele frequency in patients with the highest fatigue scores compared to those with the lowest (64% vs. 36%; p=0.027).
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ABSTRACT: The incidence of variant angina in oriental patients is higher than in patients from the Western world. Endothelin-1 (ET-1) seems to be associated with coronary vasospasm in variant angina, suggesting that ET-1 gene variants may be important in coronary vasospasm in variant angina. We wanted to assess potential association between Korean variant angina and three polymorphisms of the ET-1 gene, which include the +138delA polymorphism in exon 1, G8002A polymorphism in intron 4 and Lys198Asn polymorphism in exon 5. A total of 97 patients with variant angina and 111 healthy controls were studied. Analyses of the +138delA, G8002A and Lys198Asn polymorphisms were carried out by polymerase chain reaction-restriction fragment length polymorphism and haplotype techniques. The frequency of mutant 138delA allele was lower in the angina group than in controls [p=0.003, odds ratio (OR)=0.42] and the frequencies of A8002 or Asn198 were significantly higher in the variant angina group than in controls (p=0.005, OR=2.17 or p=0.009, OR=1.75, respectively). According to haplotype analysis, 4A/A8002/Asn198 haplotype was significantly associated with the disease (p=0.0162, OR=2.33) and 3A/G8002/Lys198 haplotype was protective against the disease (p=0.0043, OR=0.54). The ET-1 gene polymorphisms, such as +138delA, G8002A and Lys198Asn polymorphisms, seem to be associated with variant angina in Korean patients.Clinical Chemistry and Laboratory Medicine 02/2008; 46(11):1575-80. · 3.01 Impact Factor
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ABSTRACT: Endothelial dysfunction in coronary arteries is the main pathogenetic mechanism in patients with slow coronary flow (SCF). Angiotensin converting enzyme (ACE) gene polymorphism has important effects on endothelial function. However, angiographic studies investigating the relation between the ACE and angiotensin II type 1 receptor (ATIIR1) insertion (I)/deletion (D) polymorphism and SCF is limited. Fifty-four patients with normal coronary arteries documented by coronary angiography with SCF in any coronary vessel, and 22 subjects with normal coronary arteries without SCF were included in this study. The ID (I/D), II, and DD genotypes were examined. Frequency of DD genotype was found higher in SCF group (50% vs. 27%, respectively; p = .055). Frequency of D allele was significantly higher in the SCF group (p < .05). Presence of DD genotypes increased the possibility of SCF 5.25 times compared to absence of DD genotype (OR, 5.25; 95% CI, 1.30-21.38, p < .05). There was no significant correlation of ATIIR1 gene polymorphism between the 2 groups. We demonstrated that DD genotype is a risk factor for SCF. Determination of ACE gene polymorphism in patients with SCF may be helpful in medical management and risk stratification.Journal of the National Medical Association 01/2009; 101(1):40-5. · 0.91 Impact Factor