Research Papers:

Genome-wide association study of high-altitude pulmonary edema in a Han Chinese population

Xun Li, Tianbo Jin, Mingxia Zhang, Hua Yang, Xuewen Huang, Xiaobo Zhou, Wenchao Huang, Lipeng Qin, Longli Kang, Ming Fan and Suzhi Li _

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Oncotarget. 2017; 8:31568-31580. https://doi.org/10.18632/oncotarget.16362

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Xun Li1,*, Tianbo Jin2,3,*, Mingxia Zhang3, Hua Yang3, Xuewen Huang1, Xiaobo Zhou1, Wenchao Huang1, Lipeng Qin1, Longli Kang2, Ming Fan4, Suzhi Li1

1Center of Altitude Disease, General Hospital of Tibet Military Area Command, Lhasa 850003, China

2Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi 712082, China

3School of Life Sciences, Northwest University, Xi’an, Shaanxi 710069, China

4Department of Brain Protection and Plasticity, Institute of Basic Medical Sciences, Beijing 100850, China

*These authors contributed equally to this work and are joint first authors

Correspondence to:

Ming Fan, email: [email protected]

Suzhi Li, email: [email protected]

Keywords: high-altitude pulmonary edema (HAPE), single nucleotide polymorphisms (SNPs), genome wide association analysis (GWAS), susceptibility gene

Received: October 20, 2016     Accepted: February 27, 2017     Published: March 18, 2017


A two-stage genome-wide association study (GWAS) was performed to identify and analyze genes and single nucleotide polymorphisms (SNPs) associated with high-altitude pulmonary edema (HAPE) in a Han Chinese patient population. In the first stage, DNA samples from 68 patients with recurrent HAPE were scanned using Affymetrix SNP Array 6.0 Chips, and allele frequencies were compared to those of 84 HapMap CHB samples to identify candidate SNPs. In the second stage, the 77 identified candidate SNPs were examined in an independent cohort of samples from 199 HAPE patients and 304 controls. Associations between SNPs and HAPE risk were tested using various genetic models. Of the 77 original SNPs, 7 were found to be associated with HAPE susceptibility in the second stage of the study. GO and pathway enrichment analysis of the 7 SNPs revealed 5 adjacent genes involved in various processes, including regulation of nucleoside diphosphate metabolism, thyroid hormone catabolism, and low-density lipoprotein receptor activity. These results suggest the identified SNPs and genes may contribute to the physiopathology of HAPE.

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