Research Papers:
Angiotensin II receptor 1 gene variants are associated with high-altitude pulmonary edema risk
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Abstract
Tianbo Jin1,2,3,4,*, Yongchao Ren4,5,*, Xikai Zhu1,2,3, Xun Li6, Yongri Ouyang4, Xue He1,2,3, Zhiying Zhang1,2,3, Yuan Zhang1,2,3, Longli Kang1,2,3, Dongya Yuan1,2,3
1Key Laboratory for Molecular Genetic Mechanisms and Intervention Research on High Altitude disease of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi 712082, China
2Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang 712082, China
3Key Laboratory for Basic Life Science Research of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi 712082, China
4School of Life Sciences, Northwest University, Xi’an, Shaanxi 710069, China
5Qiannan Institute for Food and Drug Control, Duyun, Guizhou 558000, China
6The Center of Altitude Disease, General Hospital of Tibet Military Area Command, Lasa 850000, China
*These authors have contributed equally to this work
Correspondence to:
Dongya Yuan, email: [email protected]
Longli Kang, email: [email protected]
Key words: high-altitude pulmonary edema (HAPE), AGTR1, polymorphisms, haplotype
Received: June 07, 2016 Accepted: September 25, 2016 Published: October 06, 2016
ABSTRACT
Previous studies demonstrated that Angiotensin II Receptor 1 (AGTR1) may play an important role in the development of high-altitude pulmonary edema. We envisaged a role for AGTR1 gene variants in the pathogenesis of HAPE and investigated their potential associations with HAPE in a Han Chinese population. We genotyped seven AGTR1 polymorphisms in 267 patients with diagnosed HAPE and 304 controls and evaluated their association with risk of HAPE. Statistically significant associations were found for the single nucleotide polymorphisms (SNPs) rs275651 (p = 0.017; odds ratio [OR] = 0.65) and rs275652 (p = 0.016; OR = 0.64). Another SNP rs10941679 showed a marginally significant association after adjusting for age and sex in the additive genetic model (adjusted OR = 1.44, 95% CI = 1.01-2.04, p = 0.040). Haplotype analysis confirmed that the haplotype “AG” was associated with a 35% reduction in the risk of developing HAPE, while the haplotype “AA” increased the risk of developing HAPE by 44%. These results provide the first evidence linking genetic variations in AGTR1 with HAPE risk in Han Chinese individuals.
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