Association of EPAS1 and PPARA Gene Polymorphisms with High-Altitude Headache in Chinese Han Population
Association of EPAS1 and PPARA Gene Polymorphisms with High-Altitude Headache in Chinese Han Population
复制标题
EPAS1和PPARA基因多态性与中国汉族人群高原头痛的相关性
DOI：
10.1155/2020/1593068
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发表时间：
2020-02-24
影响因子：
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通讯作者：
Huang, Lan
中科院分区：
文献类型：
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作者：
Shen, Yang;Zhang, Jihang;Huang, Lan
背景高原头痛（HAH）是高原暴露后最常见的并发症。低氧诱导因子（Hypoxia-inducible factor-，HIF-）相关基因已被证实与高原习服有关。我们的目的是调查中国汉族人群中HIF相关基因与HAH之间的可能关联。方法在成都（海拔500 m）招募健康汉族志愿者580名，乘飞机2 h内抵达拉萨（海拔3700 m）。在抵达后18-24 h内收集HAH评分和基本生理参数。对35个HIF相关基因的单核苷酸多态性（SNPs）进行基因分型，并用Haploview软件进行连锁不平衡（LD）分析。通过Logistic回归分析，建立了HAH的SNPs/单倍型函数。结果与野生型相比，rs 4953354“G”等位基因rs6756667“A”等位基因rs6756667“A”等位基因EPAS 1和PPARA中rs6520015“C”等位基因（P=0.013），rs6756667“A PPARA（P=0.013）、rs6756667“A”等位基因（EPAS 1）、PPARA中rs6520015“C”等位基因（P=0.013）、rs6756667“A”等位基因（结论EPAS 1和PPARA基因多态性与HAH相关。我们的研究结果指出了潜在的预测基因标记，为理解发病机制提供了新的见解，并可能进一步为PPARA中HAH. EPAS 1和rs6520015“C”等位基因提供预防和治疗策略。
Background High-altitude headache (HAH) is the most common complication after high-altitude exposure. Hypoxia-inducible factor- (HIF-) related genes have been confirmed to contribute to high-altitude acclimatization. We aim to investigate a possible association between HIF-related genes and HAH in the Chinese Han population. Methods In total, 580 healthy Chinese Han volunteers were recruited in Chengdu (500 m) and carried to Lhasa (3700 m) by plane in 2 hours. HAH scores and basic physiological parameters were collected within 18–24 hours after the arrival. Thirty-five single nucleotide polymorphisms (SNPs) in HIF-related genes were genotyped, and linkage disequilibrium (LD) was evaluated by Haploview software. The functions of SNPs/haplotypes for HAH were developed by using logistic regression analysis. Results In comparison with wild types, the rs4953354 “G” allele (P=0.013), rs6756667 “A” allele (P=0.013), rs6756667 “A” allele (EPAS1, and rs6520015 “C” allele in PPARA (P=0.013), rs6756667 “A” allele (PPARA (P=0.013), rs6756667 “A” allele (EPAS1, and rs6520015 “C” allele in PPARA (P=0.013), rs6756667 “A” allele ( Conclusions EPAS1 and PPARA polymorphisms were associated with HAH in the Chinese Han population. Our findings pointed out potentially predictive gene markers, provided new insights into understanding pathogenesis, and may further provide prophylaxis and treatment strategies for HAH.EPAS1, and rs6520015 “C” allele in PPARA (