EGLN1 variants influence expression and Sao2 levels to associate with high-altitude pulmonary oedema and adaptation

Clinical Science

Volumn 124, Issue 7, 2013, Pages 479-489

  Mishra, Aastha ^a,b   Mohammad, Ghulam ^c   Thinlas, Tashi ^c   Pasha, M A Qadar ^a  

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

^b UNIVERSITY OF PUNE   (India)

^c Sonam Norboo Memorial Hospital   (India)

Author keywords

Arterial oxygen saturation; Haplotype; High altitude pulmonary oedema; Hypoxia inducible factor prolyl hydroxylase 2 (EGLN1); Interacting Genotype; Polymorphism

Indexed keywords

ENCODING HYPOXIA INDUCIBLE FACTOR PROLYL HYDROXYLASE 2; HYPOXIA INDUCIBLE FACTOR; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ADAPTATION; ADULT; ALLELE; ALTITUDE; ARTERIAL OXYGEN SATURATION; ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; GENE EXPRESSION; GENE INTERACTION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HOMOZYGOTE; HUMAN; LUNG ARTERY PRESSURE; LUNG EDEMA; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN EXPRESSION; REGRESSION ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL SIGNIFICANCE; UPREGULATION;

ADULT; ALTITUDE SICKNESS; DISEASE SUSCEPTIBILITY; FEMALE; HUMANS; HYPERTENSION, PULMONARY; MALE; MIDDLE AGED; OXYGEN; POLYMORPHISM, GENETIC; PROCOLLAGEN-PROLINE DIOXYGENASE;

EID: 84872248059     PISSN: 01435221     EISSN: None     Source Type: Journal    
DOI: 10.1042/CS20120371     Document Type: Article

References (48)

1. Hohenhaus, E., Paul, A., McCullough, R. E., Kucherer, H. and Bartsch, P. (1995) Ventilatory and pulmonary vascular response to hypoxia and susceptibility to high altitude pulmonary oedema. Eur. Respir. J. 8, 1825-1833
2. Smith, T. G., Robbins, P. A. and Ratcliffe, P. J. (2008) The human side of hypoxia-inducible factor. Br. J. Haematol. 141, 325-334
3. Semenza, G. L. (2009) Regulation of oxygen homeostasis by hypoxia-inducible factor 1. Physiology 24, 97-106
4. van Patot, M. C. and Gassmann, M. (2011) Hypoxia: adapting to high altitude by mutating EPAS-1, the gene encoding HIF-2α. High Alt. Med. Biol. 12, 157-167
5. Berra, E, Benizri, E, Ginouvéas, A, Volmat, V, Roux, D. and Pouysseagur, J (2003) HIF prolyl-hydroxylase 2 is the key oxygen sensor setting low steady-state levels of HIF-1a in normoxia. EMBO J. 22, 4082-4090
6. To, K. K. W. and Huang, L. E. (2005) Suppression of HIF-1α transcriptional activity by the HIF prolyl hydroxylase EGLN1. J. Biol. Chem. 280, 38102-38107
7. Del Peso, L., Castellanos, M. C., Temes, E., Martin-Puig, S., Cuevas, Y., Olmos, G. and Landazuri, M. O. (2003) von Hippel Lindau/hypoxia-inducible factor (HIF) pathway regulates the transcription of the HIF-proline hydroxylase genes in response to low oxygen. J. Biol. Chem. 278, 48690-48695
8. Ji, L. D., Qiu, Y. Q., Xu, J., Irwin, D. M., Tam, S. C., Tang, N. L. and Zhang, Y. P. (2012) Genetic adaptation of the hypoxia-inducible factor pathway to oxygen pressure among eurasian human populations. Mol. Biol. Evol. 29, 3359-3370
9. Peng, Y., Yang, Z., Zhang, H., Cui, C., Qi, X., Luo, X., Tao, X., Wu, T., Ouzhuluobu, Basang et al. (2011) Genetic variations in Tibetan populations and high-altitude adaptation at the Himalayas. Mol. Biol. Evol. 28, 1075-1081
10. Pagani, L., Ayub, Q., MacArthur, D. G., Xue, Y., Baillie, J. K., Chen, Y., Kozarewa, I., Turner, D. J., Tofanelli, S., Bulayeva, K. et al. (2012) High altitude adaptation in Daghestani populations from the Caucasus. Hum. Genet. 131, 423-33
11. Bigham, A., Bauchet, M., Pinto, D., Mao, X., Akey, J. M., Mei, R., Scherer, S. W., Julian, C. G., Wilson, M. J., Lòpez Herráez, D. et al. (2010) Identifying signatures of natural selection in Tibetan and Andean populations using dense genome scan data. PLoS Genet. 6, e1001116
12. Xu, S., Li, S., Yang, Y., Tan, J., Lou, H., Jin, W., Yang, L., Pan, X., Wang, J., Shen, Y. et al. (2011) A genome-wide search for signals of high-altitude adaptation in Tibetans. Mol. Biol. Evol. 28, 1003-1011
13. Aggarwal, S., Negi, S., Jha, P., Singh, P. K., Stobdan, T., Pasha, M. A. Q., Ghosh, S., Agrawal, A., Indian Genome Variation Consortium, Prasher, B. and Mukerji, M. (2010) EGLN1 involvement in high-altitude adaptation revealed through genetic analysis of extreme constitution types defined in Ayurveda. Proc. Natl. Acad. Sci. U.S.A. 107, 18961-18966
14. Simonson, T. S., Yang, Y., Huff, C. D., Yun, H., Qin, G., Witherspoon, D. J., Bai, Z., Lorenzo, F. R., Xing, J., Jorde, L. B. et al. (2010) Genetic evidence for high-altitude adaptation in Tibet. Science 329, 72-75
15. Wang, B., Zhang, Y. B., Zhang, F., Lin, H., Wang, X., Wan, N., Ye, Z., Weng, H., Zhang, L., Li, X. et al. (2011) On the origin of Tibetans and their genetic basis in adapting high-altitude environments. PLoS ONE 6, e17002
16. West, J. B. (2004) The physiologic basis of high-altitude diseases. Ann. Intern. Med. 141, 789-800
17. Bartsch, P., Mairbaurl, H., Maggiorini, M. and Swenson, E. R. (2005) Physiological aspects of high-altitude pulmonary edema. J. Appl. Physiol. 98, 1101-1110
18. Allemann, y., Sartori, C., Lepori, M., Pierre, S., Melot, C., Naeije, R., Scherrer, U. and Maggiorini, M. (2000) Echocardiographic and invasive measurements of pulmonary artery pressure correlate closely at high altitude. Am. J. Physiol. Heart Circ. Physiol. 279, H2013-H2016
19. Mishra, A., Ali, Z., Vibhuti, A., Kumar, R., Alam, P., Ram, R., Thinlas, T., Mohammad, G. and Pasha, M. A. Q. (2012) CYBA and GSTP1 variants associate with oxidative stress under hypobaric hypoxia as observed in high-altitude pulmonary oedema. Clin. Sci. 122, 299-309
20. Ahsan, A., Mohammad, G., Norboo, T., Baig, M. A. and Pasha, M. A. Q. (2006) Heterozygotes of NOS3 polymorphisms contribute to reduced nitrogen oxides in high-altitude pulmonary edema. Chest 130, 1511-1519
21. Stephens, M., Smith, N. J. and Donnelly, P. (2001) A new statistical method for haplotype reconstruction from population data. Am. J. Hum. Genet. 68, 978-989
22. Barrett, J. C., Fry, B., Maller, J. and Daly, M. J. (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21, 263-265
23. Kumasaka, N., Nakamura, Y. and Kamatani, N. (2010) The textile plot: a new linkage disequilibrium display of multiple-single nucleotide polymorphism genotype data. PLoS ONE 5, e10207
24. Mourad, R., Sinoquet, C., Dina, C. and Leray, P. (2011) Visualization of pairwise and multilocus linkage disequilibrium structure using latent forests. PLoS ONE 6, e27320
25. Hahn, L. W., Ritchie, M. D. and Moore, J. H. (2003) Multifactor dimensionality reduction software for detecting gene-gene and gene environment interactions. Bioinformatics 19, 376-382
26. Couvelard, A., Deschamps, L., Rebours, V., Sauvanet, A., Gatter, K., Pezzella, F., Ruszniewski, P. and Bedossa, P (2008) Overexpression of the oxygen sensors PHD-1, PHD-2, PHD-3, and FIH Is associated with tumor aggressiveness in pancreatic endocrine tumors. Clin. Cancer. Res. 14, 6634-6639
27. Mazzone, M., Dettori, D., Leite de Oliveira, R., Loges, S., Schmidt, T., Jonckx, B., Tian, Y. M., Lanahan, A. A., Pollard, P., Ruiz de Almodovar, C. et al. (2009) Heterozygous deficiency of PHD2 restores tumor oxygenation and inhibits metastasis via endothelial normalization. Cell 136, 839-851
28. Ali, Z., Mishra, A., Kumar, R., Alam, P., Pandey, P., Ram, R., Thinlas, T., Mohammad, G. and Pasha, M. A. Q. (2012) Interactions among vascular-tone modulators contribute to high altitude pulmonary edema and augmented vasoreactivity in highlanders. PLoS ONE 7, e44049
29. Dehnert, C., Grunig, E., Mereles, D., von Lennep, N. and Bartsch, P. (2005) Identification of individuals susceptible to high-altitude pulmonary oedema at low altitude. Eur. Respir. J. 25, 545-551
30. Kojonazarov, B. K., Imanov, B. Z., Amatov, T. A., Mirrakhimov, M. M., Naeije, R., Wilkins, M. R. and Aldashev, A. A. (2007) Noninvasive and invasive evaluation of pulmonary arterial pressure in highlanders. Eur. Respir. J. 29, 352-356
31. Leonard, M. O., Howell, K., Madden, S. F., Costello, C. M., Higgins, D. G., Taylor, C. T. and McLoughlin, P. (2008) Hypoxia selectively activates the CREB family of transcription factors in the in vivo lung. Am. J. Respir. Crit. Care Med. 178, 977-983
32. Kim, K. S., Lee, M. K., Carroll, J. and Joh, T. H. (1993) Both the basal and inducible transcription of the tyrosine hydroxylase gene are dependent upon a cAMP response element. J. Biol. Chem. 268, 15689-15695
33. Tsuchiya, H., Iseda, T. and Hino, O. (1996) Identification of a novel protein (VBP-1) binding to the von Hippel-Lindau (VHL) tumor suppressor gene product. Cancer Res. 56, 2881-2885
34. Lin, C. H., Chung, M. Y., Chen, W. B. and Chien, C. H. (2007) Growth inhibitory effect of the human NIT2 gene and its allelic imbalance in cancers. FEBS J. 274, 2946-2956
35. Ameyar, M., Wisniewska, M. and Weitzman, J. B. (2003) A role for AP-1 in apoptosis: the case for and against. Biochimie 85, 747-752
36. Ramsay, R. G. and Gonda, T. J. (2008) MYB function in normal and cancer cells. Nat. Rev. Cancer 8, 523-534
37. Ferreira, R., Ohneda, K., Yamamoto, M. and Philipsen, S. (2005) GATA1 function, a paradigm for transcription factors in hematopoiesis. Mol. Cell Biol. 25, 1215-1227
38. Cardinaux, J. R., Allaman, I. and Magistretti, P. J. (2000) Pro-inflammatory cytokines induce the transcription factors C/EBPβ and C/EBPδ in astrocytes. Glia 29, 91-97
39. oaresen, R., Oh, D. S., Dressler, L. G. et al. (2004) Mutation of GATA3 in human breast tumors. Oncogene 23, 7669-7678
40. El Rouby, S. and Newcomb, E. W. (1996) Identification of Bcd, a novel proto-oncogene expressed in B-cells. Oncogene 13, 2623-2630
41. Droma, Y., Hayano, T., Takabayashi, Y., Koizumi, T., Kubo, K., Kobayashi, T. and Sekiguchi, M. (1996) Endothelin-1 and interleukin-8 in high altitude pulmonary oedema. Eur. Respir. J. 9, 1947-1949
42. Pavlicek, V., Marti, H. H., Grad, S., Gibbs, J. S., Kol, C., Wenger, R. H., Gassmann, M., Kohl, J., Maly, F. E., Oelz, O. et al. (2000) Effects of hypobaric hypoxia on vascular endothelial growth factor and the acute phase response in subjects who are susceptible to high-altitude pulmonary oedema. Eur. J. Appl. Physiol. 81, 497-503
43. Kubo, K., Hanaoka, M., Yamaguchi, S., Hayano, T., Hayasaka, M., Koizumi, T., Fujimoto, K., Kobayashi, T. and Honda, T. (1996) Cytokines in bronchoalveolar lavage fluid in patients with high altitude pulmonary oedema at moderate altitude in Japan. Thorax 51, 739-742
44. Cook, W. J., Chase, D., Audino, D. C. and Denis, C. L. (1994) Dissection of the ADR1 protein reveals multiple, functionally redundant activation domains interspersed with inhibitory regions: evidence for a repressor binding to the ADR1c region. Mol. Cell Biol. 14, 629-640
45. Wu, C. (1995) Heat shock transcription factors: structure and regulation. Annu. Rev. Cell Dev. Biol. 11, 441-469
46. Schultz, S. C., Shields, G. C. and Steitz, T. A. (1991) Crystal structure of a CAP-DNA complex: the DNA is bent by 90 degrees. Science 253, 1001-1007
47. Hinnebusch, A. G. (2005) Translational regulation of GCN4 and the general amino acid control of yeast. Annu. Rev. Microbiol. 59, 407-450
48. Tsuzuki, S., Sekiguchi, S. and Hayakawa, Y. (2005) Regulation of growth-blocking peptide expression during embryogenesis of the cabbage armyworm. Biochem. Biophys. Res. Commun. 335, 1078-1084