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 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.
Buroker
Norman E
NE
Department of Pediatrics, University of Washington, Seattle, WA, USA. nburoker@u.washington.edu
Ning
Xue-Han
XH
Zhou
Zhao-Nian
ZN
Li
Kui
K
Cen
Wei-Jun
WJ
Wu
Xiu-Feng
XF
Ge
Ming
M
Fan
Lu-Ping
LP
Zhu
Wei-Zhong
WZ
Portman
Michael A
MA
Chen
Shi-Han
SH
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
C534931:AGT protein, human; D000808:Angiotensinogen; C488034:ACE protein, human; D007703:Peptidyl-Dipeptidase A