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与汉族人群高原性头痛相关的 及 基因多态性研究。

Association of and Gene Polymorphisms with High-Altitude Headache in Chinese Han Population.

机构信息

Institute of Cardiovascular Diseases of PLA, Xinqiao Hospital, Army Medical University, Chongqing, China.

Department of Cardiology, Xinqiao Hospital, Army Medical University, Chongqing, China.

出版信息

Biomed Res Int. 2020 Feb 24;2020:1593068. doi: 10.1155/2020/1593068. eCollection 2020.

Abstract

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 (=0.013), rs6756667 "A" allele (=0.013), rs6756667 "A" allele (, and rs6520015 "C" allele in (=0.013), rs6756667 "A" allele ( (=0.013), rs6756667 "A" allele (, and rs6520015 "C" allele in (=0.013), rs6756667 "A" allele (.

CONCLUSIONS

and 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., and rs6520015 "C" allele in (.

摘要

背景

高空头痛(HAH)是高空暴露后最常见的并发症。缺氧诱导因子(HIF)相关基因已被证实有助于高空适应。我们旨在研究 HIF 相关基因与中国汉族人群 HAH 之间的可能关联。

方法

共招募了 580 名健康的中国汉族志愿者,他们在 2 小时内乘飞机从成都(500m)被带到拉萨(3700m)。到达后 18-24 小时内收集 HAH 评分和基本生理参数。对 HIF 相关基因中的 35 个单核苷酸多态性(SNP)进行基因分型,并通过 Haploview 软件评估连锁不平衡(LD)。通过逻辑回归分析开发 SNP/单倍型对 HAH 的功能。

结果

与野生型相比,rs4953354“G”等位基因(=0.013)、rs6756667“A”等位基因(=0.013)、rs6756667“AA”基因型(=0.013)和 rs6520015“C”等位基因(=0.013)、rs6756667“AA”基因型(=0.013)、rs6756667“AA”基因型(=0.013)和 rs6520015“C”等位基因(=0.013)、rs6756667“AA”基因型(=0.013)。

结论

和 rs6520015“C”等位基因与中国汉族人群 HAH 相关。我们的研究结果指出了潜在的预测基因标记,为了解发病机制提供了新的见解,并可能进一步为 HAH 的预防和治疗策略提供依据。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f2d9/7060407/c937dc8b1952/BMRI2020-1593068.001.jpg

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