title: Genetic associations with mountain sickness in Han and Tibetan residents at the Qinghai-Tibetan Plateau.
abstract: 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 polymorphisms 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), AGT M235T (rs699), AGTR1 A1166C (rs5186), GNB3 A(-350)G (rs2071057) and APOB A/G (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 ACE D and AGT 235M 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 AGT M235T was significantly associated with SaO(2) and BPs/d in AMS patients. APOB A/G was significantly associated with BPs/d in AMS and HR in CMS patients.
  
  
  CONCLUSIONS
  AMS and CMS share very similar genetic results for the ACE I/D and AGT M235T polymorphisms indicating that these mutations have an effect on both illnesses.
authors.affiliation: Department of Pediatrics, University of Washington, Seattle, WA, USA. nburoker@u.washington.edu
authors.forename: Norman E
authors.initials: NE
authors.lastname: Buroker
authors.forename: Xue-Han
authors.initials: XH
authors.lastname: Ning
authors.forename: Zhao-Nian
authors.initials: ZN
authors.lastname: Zhou
authors.forename: Kui
authors.initials: K
authors.lastname: Li
authors.forename: Wei-Jun
authors.initials: WJ
authors.lastname: Cen
authors.forename: Xiu-Feng
authors.initials: XF
authors.lastname: Wu
authors.forename: Ming
authors.initials: M
authors.lastname: Ge
authors.forename: Lu-Ping
authors.initials: LP
authors.lastname: Fan
authors.forename: Wei-Zhong
authors.initials: WZ
authors.lastname: Zhu
authors.forename: Michael A
authors.initials: MA
authors.lastname: Portman
authors.forename: Shi-Han
authors.initials: SH
authors.lastname: Chen
mesh_terms: D000208:Acute Disease; D000531:Altitude; D000532:Altitude Sickness / Q000097:blood / Q000453:epidemiology / Q000235:genetics*; D000808:Angiotensinogen / Q000235:genetics; D002681:China; D002908:Chronic Disease; D055106:Genome-Wide Association Study; D005843:Geography; D006403:Hematologic Tests; D006801:Humans; D007703:Peptidyl-Dipeptidase A / Q000235:genetics; D011110:Polymorphism, Genetic; D018609:Tibet
chemical_list: C534931:AGT protein, human; D000808:Angiotensinogen; C488034:ACE protein, human; D007703:Peptidyl-Dipeptidase A