Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseases · 2022
[Advances in genome-wide association study of pulmonary arterial hypertension].
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Zhu Z Q, Sun X L, Chen X, Anniwaer Ankejiang, Wang M Y, Yang S Q
Аннотация
Pulmonary arterial hypertension (PAH) is a complex disease caused by multiple factors, including idiopathic PAH, heritable PAH, disease related PAH etc. Due to the high genetic heterogeneity, clinical characteristics and prognosis of PAH patients vary greatly. At present, the specific pathogenesis of PAH is unclear, and the diagnosis and treatment of PAH remain to be explored. Therefore, the study of genetic susceptibility to PAH is of great significance for understanding the occurrence and development of the disease. With the development of genome-wide association study (GWAS), a large number of genetic variations related to etiology, clinical manifestations, prognosis and treatment of PAH have been identified. This review summarizes the recent progress in the application of GWAS in the study of genetic susceptibility of PAH, and provides new insights for further exploration of the development and individualized management of PAH.