Genetic associations with mountain sickness in Han and Tibetan residents at the Qinghai-Tibetan Plateau

Background: Acute (AMS) and chronic (CMS) mountain sicknesses are illnesses that occur among humans visiting or inhabiting high-altitude environments, respectively. Some individuals are genetically less fit than others when stressed by an extreme high-altitude environment. Seven blood physiological parameters and five genetic polymorphisrns were studied in Han patients with AMS and Tibetan patients with CMS. Methods: We compared 98 AMS patients with 60 Han controls as well as 50 CMS patients with 36 Tibetan controls. The genetic loci studied are ACE I/D (rs4340), ACT M235T (rs699), AGTR1 A1166C (rs5186), GNB3 A (-350)G (rs2071057) and APOB A/C (rs693). Results: All physiological parameters (RBC, HCT, Hb, SaO(2), HR, and BPs/d) studied significantly changed in the CMS patients while SaO(2) and HR changed in the AMS Han patients compared to their controls. The ACED and ACT 235 M alleles were found to be significantly associated with AMS and CMS, respectively, while a significantly high incidence of the G-protein (GNB3) (-350)A allele was found in the AMS patients. ACE (I/D) was significantly associated with HR in CMS patients while the ACT M235T was significantly associated with SaO(2) and BPs/d in AMS patients. APOB A/C was significantly associated with BPs/d in AMS and HR in CMS patients. Conclusion: AMS and CMS share very similar genetic results for the ACE I/D and ACT M235T polymorphisms indicating that these mutations have an effect on both illnesses. (C) 2010 Elsevier B.V. All rights reserved.