慢性阻塞性肺病内皮功能障碍的遗传标记

A. K. Dausheva, E. G. Zarubina, Yu. V. Bogdanova
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摘要

目的:分析慢性阻塞性肺病内皮功能障碍的遗传标记。分析慢性阻塞性肺病内皮功能障碍的遗传标记。材料和方法。研究共调查了 285 名慢性阻塞性肺病患者,年龄为(67.12 ± 1.82)岁,其中男性占 73.68%,女性占 26.32%。对照组由 70 名受访者组成,包括 45 名相对健康的人,其中男性占 64.3%,女性占 35.7%。采用 PCR 方法检测内皮一氧化氮合酶 NOS3 (C786T)、内皮素-1 EDN1 Lys198Asn 基因的多态性。结果慢性阻塞性肺病患者队列中,病理同源基因型786SS NOS3的发病率较高(χ2=12.84,df=1,P=0.0003)。32.5%的 COPD 患者携带 EDN1 基因 Lys198Asn 多态性标记的杂合变异。结论慢性阻塞性肺病患者内皮功能障碍的表现与携带 NOS3 基因 786SS 多态性(OR 7.01,95% CI 1.59-30.81)和 EDN1 基因 Lys198Asn 多态性(OR 2.53,95% CI 0.69-9.22)的基因型易感性有关。
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Genetic markers of endothelial dysfunction in chronic obstructive pulmonary disease
Objective. To analyze genetic markers of endothelial dysfunction in chronic obstructive pulmonary disease. Materials and methods. The study involved an examination of 285 patients with chronic obstructive pulmonary disease aged 67.12 ± 1.82, including males (73.68%) and females (26.32%). A control group consisted of 70 respondents, including 45 relatively healthy people, among whom males constituted 64.3% and females 35.7%. Polymorphisms of endothelial nitric oxide synthase NOS3 (C786T), endothelin-1 EDN1 Lys198Asn genes were examined by PCR method. Results. The cohort of COPD patients revealed a prevalence of pathological homozygous genotype 786SS NOS3 (χ2=12.84, df=1, p=0.0003). Carriage of heterozygous variant of LysAsn polymorphic marker Lys198Asn of EDN1 gene in COPD patients was detected in 32.5%. Conclusion. Manifestation of endothelial dysfunction in COPD patients is due to genotypic predisposition associated with carrying polymorphisms 786SS of NOS3 gene (OR 7.01, 95% CI 1.59-30.81) and Lys198Asn of EDN1 gene (OR 2.53, 95% CI 0.69-9.22)
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