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目的:研究室间隔缺损(室缺)人群中内皮素-1基因Lys198Asn多态性与其发生肺动脉高压的相关性,寻找新的室缺肺动脉高压形成的危险因素。方法:采用以医院为基础的病例-对照研究方法,以PCR-RFLP技术分析140例室缺肺动脉高压病例和140例非肺动脉高压室缺对照内皮素-1基因Lys198Asn多态性,比较不同基因型与肺动脉高压形成危险因素关系。结果:①肺动脉高压组Lys198Asn GT和TT基因型频率明显高于非肺动脉高压组(43.6%vs 33.6%,10.7%vs 3.6%),差异有显著意义(χ2=5.23,校正OR=1.78,P<0.05;χ2=7.70,校正OR=3.34,P<0.01);②肺动脉高压组GT+TT基因型频率明显高于非肺动脉高压组(54.3%vs 37.2%),差异有显著意义(χ2=8.29,校正OR=1.94,P<0.01);③肺动脉高压组T等位基因频率明显高于非肺动脉高压组(32.5%vs 20.4%),差异有显著意义(χ2=10.62,P<0.01)。结论:内皮素-1基因Lys198Asn多态性与室缺肺动脉高压形成相关,可能是其形成的危险因素之一。
Objective: To investigate the association between the Lys198Asn polymorphism of endothelin-1 gene and pulmonary hypertension in patients with ventricular septal defect (ventricular septal defect) and to find new risk factors for the formation of pulmonary ventricular hypertrophy. Methods: A hospital-based case-control study was used to analyze the Lys198Asn polymorphism of 140 cases of ventricular hypertrophy and 140 cases of non-pulmonary hypertension ventricular endothelium-1 gene by PCR-RFLP. Relationship with risk factors of pulmonary hypertension. Results: ①The frequencies of Lys198Asn GT and TT genotypes in pulmonary hypertension group were significantly higher than those in non-pulmonary hypertension group (43.6% vs 33.6%, 10.7% vs 3.6%) (χ2 = 5.23, OR = 1.78, 0.05); χ2 = 7.70, OR = 3.34, P <0.01); ② The frequency of GT + TT genotype in pulmonary hypertension group was significantly higher than that in non-pulmonary hypertension group (54.3% vs 37.2% (OR = 1.94, P <0.01). The frequency of T allele in pulmonary hypertension group was significantly higher than that in non-pulmonary hypertension group (32.5% vs 20.4%, χ2 = 10.62, P <0.01). CONCLUSION: Lys198Asn polymorphism of ET-1 gene is associated with the formation of ventricular pulmonary hypertension, which may be one of the risk factors for its formation.