Association of endothelin-1 gene polymorphisms with variant angina in Korean patients.
BACKGROUND
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.


METHODS
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.


RESULTS
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).


CONCLUSIONS
The ET-1 gene polymorphisms, such as +138delA, G8002A and Lys198Asn polymorphisms, seem to be associated with variant angina in Korean patients.
Lee
Juyong
J
Department of Internal Medicine, Metrowest Medical Center, Framingham, MA, USA.
Cheong
Sang-sig
SS
Kim
Jeonguk
J
D000328:Adult; D000368:Aged; D000788:Angina Pectoris, Variant / Q000208:ethnology / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D019332:Endothelin-1 / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007723:Korea; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
D019332:Endothelin-1