PMID- 16764528
OWN - NLM
STAT- MEDLINE
DCOM- 20061207
LR  - 20060612
IS  - 1527-0297 (Print)
IS  - 1527-0297 (Linking)
VI  - 7
IP  - 2
DP  - 2006 Summer
TI  - Evidence for a genetic basis for altitude-related illness.
PG  - 150-67
AB  - Altitude-related illnesses are a family of interrelated pulmonary, cerebral, 
      hematological, and cardiovascular medical conditions associated with the 
      diminished oxygen availability at moderate to high altitudes. The acute forms of 
      these debilitating and potentially fatal conditions, which include acute mountain 
      sickness (AMS), high altitude pulmonary edema (HAPE), and high altitude cerebral 
      edema (HACE), often develop in incompletely acclimatized lowlanders shortly after 
      ascent, whereas, the chronic conditions, such as chronic mountain sickness (CMS) 
      and high altitude pulmonary hypertension (HAPH), usually afflict native or 
      long-term highlanders and may reflect a loss of adaptation. Anecdotal reports of 
      particularly susceptible people or families are frequently cited as evidence that 
      certain individuals have an innate susceptibility (or resistance) to developing 
      these conditions and, in recent decades, there have been a number of studies 
      designed to characterize the physiology of individuals predisposed to these 
      conditions, as well as to identify the specific genetic variants that contribute 
      to this predisposition. This paper reviews the epidemiological evidence for a 
      genetic component to the various forms of altitude-related illness, such as 
      innate susceptibility, familial clustering, and patterns of population 
      susceptibility, as well as the molecular evidence for specific genetic risk 
      factors. While the evidence supports some role for genetic background in the 
      etiology of altitude-related illness, limitations in individual studies and a 
      general lack of corroborating research limit the conclusions that can be drawn 
      about the extent of this contribution and the specific genes or pathways 
      involved. The paper closes with suggestions for future work that could support 
      and expand on previous studies, as well as provide new insights.
FAU - Rupert, Jim L
AU  - Rupert JL
AD  - School of Human Kinetics, University of British Columbia, Canada. 
      rupertj@interchange.ubc.ca
FAU - Koehle, Michael S
AU  - Koehle MS
LA  - eng
PT  - Journal Article
PT  - Review
PL  - United States
TA  - High Alt Med Biol
JT  - High altitude medicine & biology
JID - 100901183
SB  - IM
MH  - Acute Disease
MH  - Altitude Sickness/complications/*genetics
MH  - Brain Edema/*genetics
MH  - Evidence-Based Medicine
MH  - Genetic Predisposition to Disease
MH  - Humans
MH  - Hypertension, Pulmonary/*genetics
MH  - Indians, North American/genetics
MH  - Pulmonary Edema/*genetics
MH  - Travel
RF  - 111
EDAT- 2006/06/13 09:00
MHDA- 2006/12/09 09:00
CRDT- 2006/06/13 09:00
PHST- 2006/06/13 09:00 [pubmed]
PHST- 2006/12/09 09:00 [medline]
PHST- 2006/06/13 09:00 [entrez]
AID - 10.1089/ham.2006.7.150 [doi]
PST - ppublish
SO  - High Alt Med Biol. 2006 Summer;7(2):150-67. doi: 10.1089/ham.2006.7.150.