Study on the Correlation between Polymorphism of EPAS1 Gene rs1868092 and High Altitude Polycythemia in Tibetan Population

Abstract

Abstract:

Objective： To explore the correlation between the polymorphism of rs1868092 in EPAS1 gene and high altitude polycythemia （HAPC） in Tibetan population. Methods： A TaqMan probe was used to examine of the EPAS1 gene SNP rs1868092 locus in 80 Tibetan HAPC patients and 85 healthy Tibetan analysis to investigate the correlation between the SNP rs1868092 locus and the occurrence of HAPC. Results：The frequency of EPAS1 gene rs1868092 genotype GG （11.250% vs. 2.353%， P=0.005， OR=7.375， 95%CI is 1.508-36.066） and allele G（33.125% vs. 16.471%， P<0.001， OR=2.512， 95%CI is 1.490-4.234） was significantly higher than that in the healthy subjects， with statistical significance. Under the dominant model，the frequency of GG+AG genotypes in HAPC patients（P=0.002， OR=2.774， 95%CI is 1.466-5.249） was significantly higher than that in healthy controls， with statistical significance. Conclusion：The G allele of the rs1868092 SNP locus of the EPAS1 gene is a risk factor for Tibetan population to develop HAPC.

Key words:

"> font-size:10.5pt, ">EPAS1 gene, Tibetan, high altitude polycythemia, gene polymorphisms

CLC Number:

Gao Wenyu, Zeng Rong, Xu Mengna, Zhang Yuanyuan.

Study on the Correlation between Polymorphism of EPAS1 Gene rs1868092 and High Altitude Polycythemia in Tibetan Population [J]. Journal of Dali University, 2023, 8(4): 39-42.

References

〔1〕 BEALL C M. Adaptation to High Altitude： Phenotypes and Genotypes〔J〕. Annual Review of Anthropology， 2014， 43（1）： 251-272.

〔2〕 SIMONSON T S. Altitude Adaptation： A Glimpse through Various Lenses〔J〕. High Alt Med Biol， 2015， 16（2）： 125-137.

〔3〕 DE FERRARI A， MIRANDA J J， GILMAN R H， et al. Prevalence， Clinical Profile， Iron Status， and Subject-Specific Traits for Excessive Erythrocytosis in Andean Adults Living Permanently at 3 825 Meters above Sea Level〔J〕. Chest， 2014， 146（5）： 1327-1336.

〔4〕 LE?譫N-VELARDE F， MAGGIORINI M， REEVES J T， et al. Consensus Statement on Chronic and Subacute High Altitude Diseases〔J〕. High Alt Med Biol， 2005， 6（2）： 147-157.

〔5〕 KRISTAN A， DEBELJAK N， KUNEJ T. Integration and Visualization of Regulatory Elements and Variations of the EPAS1 Gene in Human〔J〕. Genes， 2021， 12（11）：1793.

〔6〕 LIU L， ZHANG Y， ZHANG Z， et al. Associations of High Altitude Polycythemia with Polymorphisms in EPHA2 and AGT in Chinese Han and Tibetan Populations〔J〕. Oncotarget， 2017， 8（32）： 53234-53243.

〔7〕 XU J， YANG Y Z， TANG F， et al. EPAS1 Gene Polymorphisms Are Associated with High Altitude Polycy-themia in Tibetans at the Qinghai-Tibetan Plateau〔J〕. Wilderness Environ Med， 2015， 26（3）： 288-294.

〔8〕 PENG Y， YANG Z， ZHANG H， et al. Genetic Variations in Tibetan Populations and High-Altitude Adaptation at the Himalayas〔J〕. Mol Biol Evol，2011，28（2）：1075-1081.

〔9〕 TASHI T， SCOTT READING N， WUREN T， et al. Gain-of-Function EGLN1 Prolyl Hydroxylase （PHD2 D4E：C127S） in Combination with EPAS1 （HIF-2α） Polymorphism Lowers Hemoglobin Concentration in Tibetan Highlanders〔J〕. J Mol Med （Berl）， 2017， 95（6）： 665-670.

〔10〕 LIU H H， TANG F， SU J， et al. EPAS1 Regulates Proliferation of Erythroblasts in Chronic Mountain Sickness〔J〕. Blood Cells Mol Dis， 2020， 84： 102446.

〔11〕汪洪波，刘海平，毛颖颖. EPAS1基因SNPrs13419896多态性与HiHiLo低氧训练适应效果关联性研究〔J〕. 山东体育学院学报， 2015， 31（1）： 75-79.

〔12〕胥瑾，王展，胡蕾，等. EPAS1、ANGPTL4基因多态性与慢性高原病遗传易感性〔J〕.中国高原医学与生物学杂志， 2017， 38（1）： 15-20.

[1]	Xiong Kai, Xiao Tianbao, Zeng Lian, Luo Zicheng, Yang Tao, Yang Shengbang. Therapeutic Effect of Miao Medicine Rubus pluribracteatus on Mice with Ulcerative Colitis [J]. Journal of Dali University, 2023, 8(4): 1-6.
[2]	Meng Dong, Li Ya, Wang Chongjuan, Tian Yong, Tian Yuncai, Wu Mingyi. Content Determination and Methodological Validation of Snail Glycosaminoglycan [J]. Journal of Dali University, 2023, 8(4): 7-12.
[3]	Wang Jinyu, Zhou Longlong, Wang Xuechang, Li Xiaodong, Geng Shuqiong, Xia Conglong. Investigation on the Mechanism of Lemai Granules in the Treatment of Vascular Dementia Based on Network Pharmacology and Molecular Docking [J]. Journal of Dali University, 2023, 8(4): 13-21.
[4]	Huang Shan, Jin Liquan, Yu Yu, Huang Ji, Zhang Junhua, Chen Yiming. Expression of SOX9 in the Directed Differentiation of Mouse Hepatic Oval Cell into Biliary Epithelial Cells [J]. Journal of Dali University, 2023, 8(4): 22-27.
[5]	Zhao Chunjing, Chen Weiguo, Bai li, Wu Youcong. Effects of Periplaneta americana Extract CⅡ-3 on the Biofilm Formation of Candida albicans [J]. Journal of Dali University, 2023, 8(4): 28-33.
[6]	Bai Zongkai, Lü Neng, Liu Runhua, Luo Yuanxi, Wu Qiuyue, Xu Jing, Wu Youcong. Investigation on the Carrier Rate and Antifungal Susceptibility of Yeast Species Isolated from External Urethral Meatus of Healthy College Students [J]. Journal of Dali University, 2023, 8(4): 34-38.
[7]	Liu Ruai, Yang Xueqian, Wang Boyong, Mei Wen, Zhou Jinghua, Xiong Wei. Research on the Point Mutation of K-ras Gene in Human Malignant Pleural Mesothelioma [J]. Journal of Dali University, 2023, 8(4): 43-49.
[8]	Yan Qixing, Zhao Lini, Tang Wenjun, Chen Jinfang, Fang Cao. Correlation between MMP-9 Gene Polymorphism and the Short-Ｔerm Efficacy of TP Regimen in Patients with Ovarian Cancer [J]. Journal of Dali University, 2023, 8(4): 50-53.
[9]	Zhang Qian, Chang Aying, Yang Zhengchun, Liu Liru. Analysis of the Effect of Using Low Calcium Dialysate and Standard Calcium Dialysate in Segmented Citrate Anticoagulant Hemodialysis [J]. Journal of Dali University, 2023, 8(4): 54-59.
[10]	Yang Sili, Luo Wanxun, Wang Jianping. Application of Temporary Occlusion of Bilateral Internal Iliac Artery Balloon in Cesarean Section of Complete Placenta Previa [J]. Journal of Dali University, 2023, 8(4): 60-63.
[11]	Gao Guoxi, Hu Jianhua, Yang Zhao, Zhang Jun, Zhang Chao. Clinical Analysis of the Therapeutic Effect of Baylor Plaster Immobilization in the Treatment of Legg-Calve-Perthes Disease in Children [J]. Journal of Dali University, 2023, 8(4): 64-68.
[12]	Chen Wenqiu, Pang Qin, Zhao Yu, Li Tao, Lin Xianghong, Sun Sujiao. Clinical Effect of ELOS Technique Combined with Human-Like Collagen Repair Dressing in the Treatment of Patients with Facial Sensitive Skin [J]. Journal of Dali University, 2023, 8(4): 69-72.
[13]	Zhang Guohui, Cheng Yan, Liang Qiuyue, Yuan Shengxing, Xiao Benlong, Gao Qiuxia, Ding Yunchuan. Clinical Application of Percutaneous Puncture Biopsy of Peripheral Lung Lesions Guided by Contrast-Enhanced Ultrasound [J]. Journal of Dali University, 2023, 8(4): 73-77.
[14]	Xiao Min, Xiong Miaomiao, Fan Yujuan, Cheng Mingjing, Wang Li, Zhao Weidong. The Predictive Value of NLR for the Severity of Acute Pancreatitis [J]. Journal of Dali University, 2023, 8(4): 78-82.
[15]	Dong Liwen, Li Xi, Li Feiyan, Yi Changqing. Analysis of Fecal Occult Blood Test in a Second Class A Hospital in Kunming City [J]. Journal of Dali University, 2023, 8(4): 83-85.