Gene Polymorphisms And High Altitude Pulmonary Hypertension

摘要

High altitude pulmonary hypertension (HAPH) is a genetically determined trait, associated with the diminished oxygen content at high altitudes and it usually affects native or long-term highlanders and may reflect a loss of adaptation. This paper reviews the epidemiological evidence for a genetic trait of the altitude-related illnesses, mainly HAPH, as well as the molecular evidence for the contribution of the specific candidate genes or pathways involved. We focus on our own data and experience in the research of genetics of HAPH done on the indigenous population of Pamir and Tien-Shan mountains. These data include the existence or lack of association of polymorphisms of ACE gene, β2–adrenoreceptor gene, C677T polymorphism of MTHFR gene, 838 C>A polymorphism of p27kip1, polymorphisms of eNOS gene and S/L polymorphism of 5-HTT gene. The paper closes with a discussion on what could be the future of the expansion of the existing database of the genetic risk factors and polymorphisms involved in the development of HAPH.