Genotype at the missense g894t polymorphism (Glu298Asp) in the NOS3 gene is associated with susceptibility to acute mountain sickness

High Altitude Medicine and Biology

Volumn 10, Issue 3, 2009, Pages 261-267

  Wang, Pei ^a   Koehle, Michael S ^a,b   Rupert, Jim L ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

Acclimatization; Altitude sickness; Cerebral hypoxia; Endothelial nitric oxide synthase; Nitric oxide; Physiological adaptation

Indexed keywords

ENDOTHELIAL NITRIC OXIDE SYNTHASE; NITRIC OXIDE;

ACCLIMATIZATION; ALTITUDE DISEASE; ARTICLE; BLOOD PRESSURE; CONTROLLED STUDY; DNA POLYMORPHISM; ENDOTHELIAL DYSFUNCTION; ENVIRONMENTAL FACTOR; GENE; GENE FREQUENCY; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; HUMAN CELL; HYPERTENSION; HYPOXIA; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NOS3 GENE; PATHOPHYSIOLOGY; PRIORITY JOURNAL; TRAVEL;

ALTITUDE SICKNESS; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; MUTATION, MISSENSE; NEPAL; NITRIC OXIDE SYNTHASE TYPE III; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 70349484821     PISSN: 15270297     EISSN: None     Source Type: Journal    
DOI: 10.1089/ham.2008.1089     Document Type: Article

References (42)

1. Ahsan A., Mohd G., Norboo T., Baig M.A., and Pasha M.A. (2006). Heterozygotes of NOS3 polymorphisms contribute to reduced nitrogen oxides in high-altitude pulmonary edema. Chest. 130:1511-1519.
2. Ahsan A., Norboo T., Baig M.A., and Qadar Pasha M.A. (2005). Simultaneous selection of the wild-type genotypes of the G894T and 4B/4A polymorphisms of NOS3 associate with high-altitude adaptation. Ann. Hum. Genet. 69:260-267.
3. Appenzeller O., Claydon V.E., Gulli G., Qualls C., Slessarev M., Zenebe G., Gebremedhin A., and Hainsworth R. (2006). Cerebral vasodilatation to exogenous NO is a measure of fitness for life at altitude. Stroke. 37(7):1754-1758.
4. Ashina M., Bendtsen L., Jensen R., and Olesen J. (2000) Nitric oxide-induced headache in patients with chronic tension-type headache. Brain. 123(Pt 9):1830-1837
5. Bartsch P., Bailey D.M., Berger M.M., Knauth M., and Baumgartner R.W. (2004). Acute mountain sickness: Controversies and advances. High Alt. Med. Biol. 5:110-124.
6. Basnyat B., Subedi D., Sleggs J., Lemaster J., Bhasyal G., Aryal B., and Subedi N. (2000). Disoriented and ataxic pilgrims: An epidemiological study of acute mountain sickness and highaltitude cerebral edema at a sacred lake at 4300m in the Nepal Himalayas. Wilderness Environ. Med. 11:89-93.
7. Beall C.M., Laskowski D., Strohl K.P., Soria R., Villena M., Vargas E., Alarcon A.M., Gonzales C., and Erzurum S.C. (2001). Pulmonary nitric oxide in mountain dwellers. Nature. 414:411-412.
8. Bland J.M., and Altman, D.G. (1995). Multiple significance tests: The Bonferroni method. BMJ. 310:170.
9. Brown D.E., Beall C.M., Strohl K.P., and Mills P.S. (2006). Exhaled nitric oxide decreases upon acute exposure to highaltitude hypoxia. Am. J. Hum. Biol. 18:196-202.
10. Busch T., Bartsch P., Pappert D., Grunig E., Hildebrandt W., Elser H., Falke K.J., and Swenson E.R. (2001). Hypoxia decreases exhaled nitric oxide in mountaineers susceptible to high-altitude pulmonary edema. Am. J. Respir. Crit. Care Med. 163:368-373.
11. Dosenko V.E., Zagoriy V.Y., Haytovich N.V., Gordok O.A., and MoibenkoA.A. (2006). Allelic polymorphism of endothelial NO-synthase gene and its functional manifestations. Acta Biochimica Polonica. 53:299-302.
12. Droma Y., Hanaoka M., Ota M., Katsuyama Y., Koizumi T., Fujimoto K., Kobayashi T., and Kubo K. (2002). Positive association of the endothelial nitric oxide synthase gene polymorphisms with high-altitude pulmonary edema. Circulation. 106:826-830.
13. Duplain H., Sartori C., Lepori M., Egli M., Allemann Y., Nicod P., and Scherrer U. (2000). Exhaled nitric oxide in high-altitude pulmonary edema: role in the regulation of pulmonary vascular tone and evidence for a role against inflammation. Am. J. Respir. Crit. Care Med. 162:221-224.
14. Gertsch, J.H., Seto, T.B., Mor, J., and Onopa, J. (2002). Ginkgo biloba for the prevention of severe acute mountain sickness (AMS) starting one day before rapid ascent. High Alt. Med. Biol. 3:29-37.
15. Hackett P.H., and Roach R.C. (2001). High-altitude illness. N. Engl. J. Med. 345:107-114.
16. Hackett P.H., and Roach R.C. (2004). High altitude cerebral edema. High Alt. Med. Biol. 5: 136-146.
17. Hoit B.D., Dalton N.D., Erzurum S.C., Laskowski D., Strohl K.P., and Beall, C.M. (2005). Nitric oxide and cardiopulmonary hemodynamics in Tibetan highlanders. J. Appl. Physiol. 99:1796-1801.
18. Honigman B., Theis M.K., Koziol-McLain J., Roach R., Yip R., Houston C., Moore L.G., and Pearce P. (1993). Acute mountain sickness in a general tourist population at moderate altitudes. Ann. Intern. Med. 118:587-592.
19. Hultgren H.N., and Marticorena E.A. (1978). High altitude pulmonary edema. Epidemiologic observations in Peru. Chest. 74:372-376.
20. Jiang C.Z., Li F.Z., He M.A., Sun S.Y., Zhang S.Y., Liao R., Jia S.Y., Zeng H.S., and Wu T.C. (2005). [Glutathione Stransferase M1, T1 genotypes and the risk of mountain sickness] Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi. 23:188-190 [Chinese].
21. King I.B., Satia-Abouta J., Thornquist M.D., Bigler J., Patterson R.E., Kristal A.R., Shattuck A.L., Potter J.D., and White E. (2002). Buccal cell DNA yield, quality, and collection costs: Comparison of methods for large-scale studies. Cancer Epidemiol. Biomarkers Prev. 11:1130-1133.
22. Koehle M.S., Wang P., Guenette J.A., and Rupert J.L. (2006). No association between variants in the ACE and angiotensin II receptor 1 genes and acute mountain sickness in Nepalese pilgrims to the Janai Purnima Festival at 4380 metres. High Alt. Med. Biol. 7: 281-289.
23. Palma J., Macedonia C., Deuster P., Olsen C., Mozayeni B.R., and Crutchfield K.E. (2006). Cerebrovascular dynamics and vascular endothelial growth factor in acute mountain sickness. Wilderness Environ. Med. 17:1-7.
24. Roach R., Bartsch P., Hackett P., and Oelz O. (1993). The Lake Louise acute mountain sickness scoring system. In: Hypoxia and Molecular Medicine: Proceedings of the 8th International Hypoxia Symposium. J.R. Sutton, G. Coates, and C.S. Houston, eds. Queen City Printers, Burlington, VT; pp. 272-274.
25. Robinson S.M., King A.B., and Aoki V. (1971). Acute mountain sickness: reproducibility of its severity and duration in an individual. Aerospace Med. 42:706-708.
26. Rupert J.L., and Koehle M.S. (2006). Evidence for a genetic basis for altitude-related illness. High Alt. Med. Biol. 7:150-167.
27. Saftlas A.F., Waldschmidt M., Logsden-Sackett N., Triche E., and Field E. (2004). Optimizing buccal cell DNA yields in mothers and infants for human leukocyte antigen genotyping. Am. J. Epidemiol. 160:77-84.
28. Sawada T., Kishimoto T., Osaki Y., Okamoto M., Tahara A., Kaetu A., Kurosawa Y., and Kotani K. (2008). Relation of the Glu298Asp polymorphism of the nitric oxide synthase gene to hypertension and serum cholesterol in Japanese workers. Prev. Med. 47:167-171.
29. Scherrer U., Vollenweider L., Delabays A., Savcic M., Eichenberger U., Kleger G.R., Fikrle A., Ballmer P.E., Nicod P., and Bartsch P. (1996). Inhaled nitric oxide for high-altitude pulmonary edema. N. Engl. J. Med. 334:624-629.
30. Schneider J.C., Blazy I., Dechaux M., Rabier D., Mason N.P., and Richalet J.P. (2001). Response of nitric oxide pathway to Larginine infusion at the altitude of 4,350 m. Eur. Respir. J. 18:286-292.
31. Schneider, M., Bernasch, D., Weymann, J., Holle, R., and Bartsch, P. (2002). Acute mountain sickness: influence of susceptibility, preexposure, and ascent rate. Med. Sci. Sports Exerc. 34: 1886-1891.
32. Schneider M.P., Erdmann J., Delles C., Fleck E., Regitz-Zagrosek V., and Schmieder R.E. (2000). Functional gene testing of the Glu298Asp polymorphism of the endothelial NO synthase. J. Hypertens. 18:1767-1773.
33. Schoene R.B. (2004). Unraveling the mechanism of high altitude pulmonary edema. High Alt. Med. Biol. 5:125-135.
34. Sofowora G., Dishy V., Xie H.G., Imamura H., Nishimi Y., Morales C.R., Morrow J.D., Kim R.B., Stein C.M., and Wood A.J. (2001). In-vivo effects of Glu298Asp endothelial nitric oxide synthase polymorphism. Pharmacogenetics. 11:809-814.
35. Srivastava K., Narang R., Sreenivas V., Das S., and Das N. (2008). Association of eNOS Glu298Asp gene polymorphism with essential hypertension in Asian Indians. Clin. Chim. Acta. 387:80-83.
36. Strapazzon G., Cogo A., and Semplicini A. (2008). Acute mountain sickness in a subject with metabolic syndrome at high altitude. High Alt. Med. Biol. 9:245-248.
37. Thorisson G., Smith A., Krishnan L., and Stein, L. (2005). A Users Guide to the International HapMap Project Web Site. http:// wwwhapmaporg/downloads/ presentations/users-guide-to- hapmappdf.
38. Van Mil A.H., Spilt A., Van Buchem M.A., Bollen E.L., Teppema L., Westendorp R.G., and Blauw G.J. (2002). Nitric oxide mediates hypoxia-induced cerebral vasodilation in humans. J. Appl. Physiol. 92:962-966.
39. Veldman B.A., Spiering,W., Doevendans P.A., Vervoort G., Kroon A.A., de Leeuw P.W., and Smits P. (2002). The Glu298Asp polymorphism of the NOS 3 gene as a determinant of the baseline production of nitric oxide. J. Hypertens. 20: 2023-2027.
40. Wang P., Koehle M.S., and Rupert, J.L. (2007). Common haplotypes in the b-2 adrenergic receptor gene are not associated with acute mountain sickness susceptibility in Nepalese. High Alt. Med. Biol. 8:206-212.
41. Zhang K., Calabrese P., Nordborg M., and Sun F. (2002). Haplotype block structure and its applications to association studies: power and study designs. Am. J. Hum. Genet. 71: 1386-1394.
42. Zhou F., Wang F., Li F., Yuan J., Zeng H., Wei Q., Tanguay R.M., and Wu T. (2005). Association of hsp70-2 and hsp-hom gene polymorphisms with risk of acute high-altitude illness in a Chinese population. Cell Stress Chaperones. 10:349-356.