Differences in Pathogenetic Mechanism Between Tibetan and Han High-Altitude Polycythemia Based on a Whole Genome-Wide Association Study

Zhuoma Basang 1
, 
Shixuan Zhang 2
, 
Xianwei Ke 3
, 
Zhuoma Duoji 1
, 
La Yang 1
, 
Qiangba Danzeng 1
, 
De Yang 4
, 
Deji Gesang 5
, 
Zixin Hu 6
, 
Yanyun Ma 2, 7
, 
Hao Meng 2
, 
Ruidong Fan 8
, 
Li Han 8
, 
Zeshan Lin 2
, 
Yi Li 2, 9
, 
Jiucun Wang 2, 10
, 
Juan Wu 1
1
 
2
 
3
 
4
 
Rehabilitation Medical Division, People’s Hospital of Tibet Autonomous Region, Lhasa, China | 
5
 
Division of Rehabilitation Medicine of the People’s Hospital of Tibet Autonomous Region, Lhasa, China | 
6
 
7
 
8
 
Department of Integrated Traditional Chinese and Western Medicine, Shigatse People’s Hospital, Shigatse, China | 
9
 
International Human Phenome Institutes (Shanghai), Shanghai, China | 
10
 
Publication type: Journal Article
Publication date: 2025-02-15
Springer Nature
scimago Q1
wos Q1
SJR: 1.733
CiteScore: 6.8
Impact factor: 6.2
ISSN: 2730583X, 27305848
Abstract
High-altitude polycythemia (HAPC) is a prevalent chronic condition affecting individuals at high altitudes, including both highland and plains populations. This study, involving 2248 participants, explored genetic susceptibility to HAPC among ethnic groups, with 898 HAPC patients (450 Han, 448 Tibetan). The Genome-wide Association Study, encompassing 198 cases (100 Han, 98 Tibetan), identified eight Tibetan HAPC-susceptibility single-nucleotide polymorphisms and four in Han individuals. The common polymorphism locus rs7618658 (SNX4, pcombine < 5 × 10–8) was validated in both populations. The investigation of Tibetan EPAS1 revealed the rs1374749 locus, along with linked loci, as a potential prevalence factor for HAPC. The GGTAC haplotype containing this locus emerged as a Protect haplotype for HAPC (p = 2.461 × 10–12, OR = 0.344). Enrichment analysis revealed that Tibetans exhibited susceptibility in oxygen-sensing pathways, such as EPAS1, associated with phenotypes like hemoglobin and platelets. In contrast, Han Chinese showed significant sensitivity in cell differentiation and angiogenesis, closely linked to hemoglobin, hematocrit, and platelets.
Found 

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Basang Z. et al. Differences in Pathogenetic Mechanism Between Tibetan and Han High-Altitude Polycythemia Based on a Whole Genome-Wide Association Study // Phenomics. 2025.
GOST all authors (up to 50) Copy
Basang Z., Zhang S., Ke X., Duoji Z., Yang L., Danzeng Q., De Yang, Gesang D., Hu Z., Ma Y., Hao Meng, Fan R., Han L., Lin Z., Li Y., Wang J., Wu J. Differences in Pathogenetic Mechanism Between Tibetan and Han High-Altitude Polycythemia Based on a Whole Genome-Wide Association Study // Phenomics. 2025.
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TY - JOUR
DO - 10.1007/s43657-024-00180-y
UR - https://link.springer.com/10.1007/s43657-024-00180-y
TI - Differences in Pathogenetic Mechanism Between Tibetan and Han High-Altitude Polycythemia Based on a Whole Genome-Wide Association Study
T2 - Phenomics
AU - Basang, Zhuoma
AU - Zhang, Shixuan
AU - Ke, Xianwei
AU - Duoji, Zhuoma
AU - Yang, La
AU - Danzeng, Qiangba
AU - De Yang
AU - Gesang, Deji
AU - Hu, Zixin
AU - Ma, Yanyun
AU - Hao Meng
AU - Fan, Ruidong
AU - Han, Li
AU - Lin, Zeshan
AU - Li, Yi
AU - Wang, Jiucun
AU - Wu, Juan
PY - 2025
DA - 2025/02/15
PB - Springer Nature
SN - 2730-583X
SN - 2730-5848
ER -
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@article{2025_Basang,
author = {Zhuoma Basang and Shixuan Zhang and Xianwei Ke and Zhuoma Duoji and La Yang and Qiangba Danzeng and De Yang and Deji Gesang and Zixin Hu and Yanyun Ma and Hao Meng and Ruidong Fan and Li Han and Zeshan Lin and Yi Li and Jiucun Wang and Juan Wu},
title = {Differences in Pathogenetic Mechanism Between Tibetan and Han High-Altitude Polycythemia Based on a Whole Genome-Wide Association Study},
journal = {Phenomics},
year = {2025},
publisher = {Springer Nature},
month = {feb},
url = {https://link.springer.com/10.1007/s43657-024-00180-y},
doi = {10.1007/s43657-024-00180-y}
}