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The relationship between coronary artery ectasia and eNOS intron 4a/b gene polymorphisms

机译:冠状动脉扩张与eNOS内含子4a / b基因多态性的关系

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Background Little is known about the pathogenesis and genetics of coronary artery ectasia (CAE). We studied eNOS gene intron 4a/b polymorphism in this patient population. Methods The study group included 30 patients with non-obstructive CAD besides CAE on coronary angiogram performed due to positive non-invasive diagnostic test results. The control group included 20 patients with normal coronary arteries. Agarose gel electrophoresis was used to identify eNOS gene polymorphisms. Results Only one coronary vessel was involved in most of the study cohort and the left anterior descending artery (LAD) was the most frequently involved vessel. The frequencies of eNOS gene phenotypes in the CAE group were 3.3% for "aa", 53.3% for "ab" and they were higher than in the control group. However, statistical significance was not reached (χ2 = 5.10, P = 0.08). When compared with the control group the presence of "a" type allele of eNOS gene was significantly more frequent in the CAE group (χ2 = 4.88, P = 0.027). By univariate analysis, eNOS gene polymorphism was correlated with CAE but this significance was attenuated after additional adjustment for potential confounding. Conclusion Patients who have the "a" type allele of the eNOS gene may have an increased risk for CAE.
机译:背景技术关于冠状动脉扩张(CAE)的发病机理和遗传学知之甚少。我们研究了该患者人群中的eNOS基因内含子4a / b多态性。方法研究组除因冠状动脉造影取得CAE以外,还因非侵入性诊断测试结果阳性而对30例非阻塞性CAD患者进行了研究。对照组包括20例冠状动脉正常的患者。琼脂糖凝胶电泳用于鉴定eNOS基因多态性。结果大多数研究队列仅累及一根冠状动脉,而左前降支(LAD)是受累频率最高的血管。 CAE组eNOS基因表型的频率为“ aa”为3.3%,为“ ab”为53.3%,高于对照组。但是,未达到统计学显着性(χ2= 5.10,P = 0.08)。与对照组相比,CAE组中eNOS基因的“ a”型等位基因的存在更为频繁(χ2= 4.88,P = 0.027)。通过单变量分析,eNOS基因多态性与CAE相关,但是在进一步调整潜在混杂因素后,这一意义减弱了。结论患有eNOS基因“ a”型等位基因的患者可能会增加CAE的风险。

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