한국인에서 Prostacyclin Synthase 유전자의C1117A 다형성과 급성 관동맥 증후군과의 연관성

배경 및 목적：혈소판 응집을 저해하는 prostacylin을 생성하는 prostacylin synthase C1117A의 변이가 급성 관동맥 증후군과 관련성이 있는지를 알아보고자 하였다.방 법：1998년 1월 1일부터 2000년 12월 31일까지 충남대학교병원 순환기내과에서 관상 동맥조영술을 받은 환자중 급성 심근경색 환자군(60예)과 협착이 없는 정상 대조군(59예)을 대상으로 관동맥 조영술 시행 직전 채취한 혈액에서 연층을 분리한후 genomic DNA를 추출하여 중합효소 연쇄반응법 및 restriction fragment length polymorphism(RFLP)을 이용하여 prostacyclin synthase 변이여부를 확인하였다. 결 론： Prostacyclin synthase C1117A는 심근경색 환자군에서 대조군에 비해 C/C형 homozygote의 빈도가 높아서 심근경색의 위험 인자 중 하나로 생각된다. Background and Objectives：Platelets play an important role in the pathogenesis of acute coronary syndrome. Prostacyclin inhibits platelet aggregation, smooth muscle cell proliferation and vasoconstriction, and it counteracts thromboxane A2 activity. The purpose of this study is to evaluate the association between a single nucleotide polymorphism in the prostacyclin synthase gene and myocardial infarction in Koreans. Subjects and Methods：We studied total 119 patients (M：F=72：47, mean ages=57.9). We compared 60 acute coronary syndrome patients who underwent coronary angiography with the diagnosis of acute myocardial infarction (MI), with 59 normal control group patients who had normal coronary angiograms. With the use of polymerase chain reaction-restriction fragment length polymorphism analysis, we identified a single nucleotide polymorphism, C1117A, in exon 8. Results：The genotype distribution and allele frequencies were significantly different between the control group and MI group. Frequency of the genotype C1117A was：AA：AC：CC=3.4%：30.5%：66.1% in control group, respectively, and AA：AC：CC=1.7%：10.0%：88.3% in MI group, respectively. Prostacyclin synthase polymorphism was observed in the MI group and the control group, but the frequency of the CC genotype was high in MI group (odds ratio, 3.88；95% CI 1.49-10.88, p=0.003). Compared to control group, being male, having diabetes, hypertension or obesity, and the smoking rate were high in MI group. There were not significantly differences between genotypes for clinical characteristics. Conclusion：We conclude that the C1117A polymorphism in exon 8 of the prostacyclin synthase gene is associated with MI, and it may be a genetic marker of MI in Koreans. KCI Citation Count: 1