Genetic variation in SENP1 and ANP32D as predictors of chronic mountain sickness

High Altitude Medicine and Biology

Volumn 15, Issue 4, 2014, Pages 497-499

  Cole, Amy M ^a   Petousi, Nayia ^b   Cavalleri, Gianpiero L ^a   Robbins, Peter A ^b  

^a ROYAL COLLEGE OF SURGEONS IN IRELAND   (Ireland)

^b UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALTITUDE DISEASE; ANP32D GENE; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PREDICTOR VARIABLE; SENP1 GENE; CASE CONTROL STUDY; CHRONIC DISEASE; GENETICS; META ANALYSIS; MIDDLE AGED; PERU;

ANP32E PROTEIN, HUMAN; NUCLEAR PROTEIN; PHOSPHOPROTEIN; PROTEINASE; SENP1 PROTEIN, HUMAN;

ADULT; ALTITUDE SICKNESS; CASE-CONTROL STUDIES; CHRONIC DISEASE; COHORT STUDIES; ENDOPEPTIDASES; GENETIC VARIATION; HUMANS; MALE; MIDDLE AGED; NUCLEAR PROTEINS; PERU; PHENOTYPE; PHOSPHOPROTEINS;

EID: 84919701394     PISSN: 15270297     EISSN: 15578682     Source Type: Journal    
DOI: 10.1089/ham.2014.1036     Document Type: Article

References (14)

1. Cheng J, Kang X, Zhang S, and Yeh ET. (2007). SUMOspecific protease 1 is essential for stabilization of HIF1alpha during hypoxia. Cell 131: 584-595.
2. Flicek P, Amode MR, Barrell D, et al. (2014). Ensembl 2014. Nucleic Acids Res 42: D749-755.
3. Kadkol SS, Brody JR, Pevsner J, Bai J, and Pasternack GR. (1999). Correction to: Modulation of oncogenic potential by alternative gene use in human prostate cancer. Nature Med 5: 1087.
4. Leon-Velarde F, Gamboa A, Chuquiza JA, Esteba WA, Rivera- Chira M, and Monge CC. (2000). Hematological parameters in high altitude residents living at 4, 355, 4, 660, and 5, 500 meters above sea level. High Alt Med Biol 1: 97-104.
5. Leon-Velarde F, Maggiorini M, Reeves JT, et al. (2005). Consensus statement on chronic and subacute high altitude diseases. High Alt Med Biol 6: 147-157.
6. Mejia OM, Prchal JT, Leon-Velarde F, Hurtado A, and Stockton DW. (2005). Genetic association analysis of chronic mountain sickness in an Andean high-altitude population. Haematologica 90: 13-19.
7. Monge C. (1942). Life in the Andes and Chronic Mountain Sickness. Science (New York, NY) 95: 79-84.
8. Monge CC, Arregui A, and Leon-Velarde F. (1992). Pathophysiology and epidemiology of chronic mountain sickness. Intl J Sports Med 13: S79-81.
9. Purcell S, Neale B, Todd-Brown K, et al. (2007). PLINK: A tool set for whole-genome association and population-based linkage analyses. Am J Human Genet 81: 559-575.
10. Wu TY. (2005). Chronic mountain sickness on the Qinghai- Tibetan plateau. Chin Med J 118: 161-168.
11. Xing G, Qualls C, Huicho L, et al. (2008). Adaptation and maladaptation to ambient hypoxia; Andean, Ethiopian, and Himalayan patterns. PloS One 3: e2342.
12. Xu Y, Zuo Y, Zhang H, et al. (2010). Induction of SENP1 in endothelial cells contributes to hypoxia-driven VEGF expression and angiogenesis. J Biol Chem 285: 36682-36688.
13. Yu L, Ji W, Zhang H, et al. (2010). SENP1-mediated GATA1 deSUMOylation is critical for definitive erythropoiesis. J Exp Med 207: 1183-1195.
14. Zhou D, Udpa N, Ronen R, et al. (2013). Whole-genome sequencing uncovers the genetic basis of chronic mountain sickness in andean highlanders. Am J Human Genet 93: 452-462.