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目的探讨室间隔缺损(VSD)肺动脉高压(PAH)形成的危险因素。方法以PCR-RFLP技术分析140例VSD合并PAH(PAH组)和140例VSD无PAH(对照组)患者内皮素1基因TaqI多态性,比较不同基因型与PAH形成危险因素的关系。结果 PAH组TaqI TC和CC基因型频率明显高于对照组(44.3%vs.33.6%和10.0%vs.3.6%)(P<0.01)。PAH组TC+CC基因型频率明显高于对照组(54.3%vs.37.2%)(P<0.01)。PAH组C等位基因频率明显高于对照组(32.1%vs.20.4%)(P<0.01)。结论内皮素1基因TaqI多态性与VSD合并PAH形成相关,可能是其形成的危险因素之一。
Objective To investigate the risk factors of pulmonary hypertension (PAH) in ventricular septal defect (VSD). Methods PCR-RFLP was used to analyze TaqI polymorphism of endothelin-1 in 140 patients with VSD combined with PAH (PAH group) and 140 patients with VSD without PAH (control group), and the relationship between different genotypes and PAH risk factors was analyzed. Results The frequency of TaqI TC and CC genotypes in PAH group was significantly higher than that in control group (44.3% vs.33.6% and 10.0% vs.3.6%, P <0.01). The frequency of TC + CC genotype in PAH group was significantly higher than that in control group (54.3% vs.37.2%, P <0.01). The frequency of C allele in PAH group was significantly higher than that in control group (32.1% vs. 20.4%, P <0.01). Conclusion The TaqI polymorphism of endothelin 1 is associated with the formation of VSD and PAH, which may be one of the risk factors for its formation.