Probable role of β2-adrenergic receptor gene haplotype in high-altitude pulmonary oedema

Respirology

Volumn 15, Issue 4, 2010, Pages 651-658

  Stobdan, Tsering ^a,b   Kumar, Ram ^a   Mohammad, Ghulam ^c   Thinlas, Tashi ^c   Norboo, Tsering ^d   Iqbal, Mohammad ^c   Pasha, M A Qadar ^a,b  

^a CSIR INSTITUTE OF GENOMICS AND INTEGRATIVE BIOLOGY   (India)

^b UNIVERSITY OF PUNE   (India)

^c Department of Medicine   (Australia)

^d Ladakh Institute of Prevention   (India)

Author keywords

2 adrenergic receptor; Haplotype; High altitude pulmonary oedema; Lung fluid clearance; Multidimensional reduction

Indexed keywords

BETA 2 ADRENERGIC RECEPTOR;

ADULT; ARTICLE; CONTROLLED STUDY; EXON; GENE INTERACTION; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HIGH ALTITUDE PULMONARY EDEMA; HUMAN; LUNG EDEMA; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; ALTITUDE DISEASE; CASE CONTROL STUDY; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETICS;

ADULT; ALTITUDE SICKNESS; CASE-CONTROL STUDIES; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; PULMONARY EDEMA; RECEPTORS, ADRENERGIC, BETA-2; YOUNG ADULT;

EID: 77951735943     PISSN: 13237799     EISSN: 14401843     Source Type: Journal    
DOI: 10.1111/j.1440-1843.2010.01757.x     Document Type: Article

References (39)

1. Hultgren HN. High-altitude pulmonary edema: current concepts. Annu. Rev. Med. 1996 47 : 267 284.
2. Dada LA, Chandel NS, Ridge KM et al. Hypoxia-induced endocytosis of Na,K-ATPase in alveolar epithelial cells is mediated by mitochondrial reactive oxygen species and PKC-zeta. J. Clin. Invest. 2003 111 : 1057 1064.
3. Litvan J, Briva A, Wilson MS et al. Beta-adrenergic receptor stimulation and adenoviral overexpression of superoxide dismutase prevent the hypoxia-mediated decrease in Na,K-ATPase and alveolar fluid reabsorption. J. Biol. Chem. 2006 281 : 19892 19898.
4. Azzam ZS, Adir Y, Crespo A et al. Norepinephrine increases alveolar fluid reabsorption and Na,K-ATPase activity. Am. J. Respir. Crit. Care Med. 2004 170 : 730 736.
5. Mutlu GM, Sznajder JI. beta(2)-Agonists for treatment of pulmonary edema: ready for clinical studies? Crit. Care Med. 2004 32 : 1607 1608.
6. 2-induced alveolar epithelial dysfunction in rats and human cells by promoting Na,K-ATPase endocytosis. J. Clin. Invest. 2008 118 : 752 762.
7. Dumasius V, Sznajder JI, Azzam ZS et al. beta(2)-adrenergic receptor overexpression increases alveolar fluid clearance and responsiveness to endogenous catecholamines in rats. Circ. Res. 2001 89 : 907 914.
8. Frank JA, Wang Y, Osorio O et al. Beta-adrenergic agonist therapy accelerates the resolution of hydrostatic pulmonary edema in sheep and rats. J. Appl. Physiol. 2000 89 : 1255 1265.
9. Licker M, Tschopp JM, Robert J et al. Aerosolized salbutamol accelerates the resolution of pulmonary edema after lung resection. Chest 2008 133 : 845 852.
10. Sakuma T, Folkesson HG, Suzuki S et al. Beta-adrenergic agonist stimulated alveolar fluid clearance in ex vivo human and rat lungs. Am. J. Respir. Crit. Care Med. 1997 155 : 506 512.
11. Sartori C, Allemann Y, Duplain H et al. Salmeterol for the prevention of high-altitude pulmonary edema. N. Engl. J. Med. 2002 346 : 1631 1636.
12. Kobilka BK, Dixon RA, Frielle T et al. cDNA for the human beta 2-adrenergic receptor: a protein with multiple membrane-spanning domains and encoded by a gene whose chromosomal location is shared with that of the receptor for platelet-derived growth factor. Proc. Natl. Acad. Sci. U.S.A. 1987 84 : 46 50.
13. Small KM, McGraw DW, Liggett SB. Pharmacology and physiology of human adrenergic receptor polymorphisms. Annu. Rev. Pharmacol. Toxicol. 2003 43 : 381 411.
14. Hamid QA, Mak JC, Sheppard MN et al. Localization of beta 2-adrenoceptor messenger RNA in human and rat lung using in situ hybridization: correlation with receptor autoradiography. Eur. J. Pharmacol. 1991 206 : 133 138.
15. Bleecker ER, Postma DS, Lawrance RM et al. Effect of ADRB2 polymorphisms on response to longacting beta2-agonist therapy: a pharmacogenetic analysis of two randomised studies. Lancet 2007 370 : 2118 2125.
16. Schaak S, Mialet-Perez J, Flordellis C et al. Genetic variation of human adrenergic receptors: from molecular and functional properties to clinical and pharmacogenetic implications. Curr. Top. Med. Chem. 2007 7 : 217 231.
17. Tomaszewski M, Brain NJ, Charchar FJ et al. Essential hypertension and beta2-adrenergic receptor gene: linkage and association analysis. Hypertension 2002 40 : 286 291.
18. Rupert JL, Monsalve MV, Devine DV et al. Beta2-adrenergic receptor allele frequencies in the Quechua, a high altitude native population. Ann. Hum. Genet. 2000 64 : 135 143.
19. Loeppky JA, Icenogle MV, Maes D et al. Body temperature, autonomic responses, and acute mountain sickness. High Alt. Med. Biol. 2003 4 : 367 373.
20. Wang P, Koehle MS, Rupert JL. Common haplotypes in the beta-2 adrenergic receptor gene are not associated with acute mountain sickness susceptibility in Nepalese. High Alt. Med. Biol. 2007 8 : 206 212.
21. Snyder EM, Beck KC, Turner ST et al. Genetic variation of the beta2-adrenergic receptor is associated with differences in lung fluid accumulation in humans. J. Appl. Physiol. 2007 102 : 2172 2178.
22. Mazzeo RS, Reeves JT. Adrenergic contribution during acclimatization to high altitude: perspectives from Pikes Peak. Exerc. Sport Sci. Rev. 2003 31 : 13 18.
23. Moore GE, Shuldiner AR, Zmuda JM et al. Obesity gene variant and elite endurance performance. Metabolism 2001 50 : 1391 1392.
24. Wolfarth B, Rankinen T, Muhlbauer S et al. Association between a beta2-adrenergic receptor polymorphism and elite endurance performance. Metabolism 2007 56 : 1649 1651.
25. Ahsan A, Mohd G, Norboo T et al. Heterozygotes of NOS3 polymorphisms contribute to reduced nitrogen oxides in high-altitude pulmonary edema. Chest 2006 130 : 1511 1519.
26. Charu R, Stobdan T, Ram RB et al. Susceptibility to high altitude pulmonary oedema: role of ACE and ET-1 polymorphisms. Thorax 2006 61 : 1011 1012.
27. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988 16 : 1215.
28. Barrett JC, Fry B, Maller J et al. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005 21 : 263 265.
29. Hahn LW, Ritchie MD, Moore JH. Multifactor dimensionality reduction software for detecting gene-gene and gene-environment interactions. Bioinformatics 2003 19 : 376 382.
30. Stephens M, Smith NJ, Donnelly P. A new statistical method for haplotype reconstruction from population data. Am. J. Hum. Genet. 2001 68 : 978 989.
31. Sole X, Guino E, Valls J et al. SNPStats: a web tool for the analysis of association studies. Bioinformatics 2006 22 : 1928 1929.
32. Drysdale CM, McGraw DW, Stack CB et al. Complex promoter and coding region beta 2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness. Proc. Natl. Acad. Sci. U.S.A. 2000 97 : 10483 10488.
33. Genetic landscape of the people of India: a canvas for disease gene exploration. J. Genet. 2008 87 : 3 20.
34. Kay LJ, Rostami-Hodjegan A, Suvarna SK et al. Influence of beta2-adrenoceptor gene polymorphisms on beta2-adrenoceptor-mediated responses in human lung mast cells. Br. J. Pharmacol. 2007 152 : 323 331.
35. Hawkins GA, Tantisira K, Meyers DA et al. Sequence, haplotype, and association analysis of ADRbeta2 in a multiethnic asthma case-control study. Am. J. Respir. Crit Care. Med. 2006 174 : 1101 1109.
36. Wolk R, Snyder EM, Somers VK et al. Arginine 16 glycine beta2-adrenoceptor polymorphism and cardiovascular structure and function in patients with heart failure. J. Am. Soc. Echocardiogr. 2007 20 : 290 297.
37. Wechsler ME, Lehman E, Lazarus SC et al. beta-Adrenergic receptor polymorphisms and response to salmeterol. Am. J. Respir. Crit. Care Med. 2006 173 : 519 526.
38. Jazdzewski K, Bednarczuk T, Stepnowska M et al. beta-2-adrenergic receptor gene polymorphism confers susceptibility to Graves disease. Int. J. Mol. Med. 2007 19 : 181 186.
39. Bruck H, Leineweber K, Park J et al. Human beta2-adrenergic receptor gene haplotypes and venodilation in vivo. Clin. Pharmacol. Ther. 2005 78 : 232 238.