GTPase活性调节通路与中国塔吉克族高原原发性高血压疾病的遗传关联研究

刘鑫源; 陈郁; 阳盛洪; 罗勇军

doi:10.16016/j.1000-5404.202012076

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GTPase活性调节通路与中国塔吉克族高原原发性高血压疾病的遗传关联研究

公共卫生与预防医学 | 更新时间：2026-01-09

- GTPase活性调节通路与中国塔吉克族高原原发性高血压疾病的遗传关联研究
- Genetic association between regulation of GTPase activity pathway and high-altitude essential hypertension among Chinese Tajiks
- 第三军医大学学报 2021年43卷第10期页码：989-996
- 作者机构：
- 作者简介：
- 基金信息：
  
  国家自然科学基金面上项目(81571843);青海省基础研究计划项目(2018-ZJ-705);国家科技部第二次青藏高原综合科学考察研究专题(2019QZKK0607);陆军军医大学军事后勤科研专项课题(2019HQZX20)
- DOI：10.16016/j.1000-5404.202012076
  中图分类号：
- 收稿：2020-12-10，
  
  纸质出版：2021-05-30
- 稿件说明：
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刘鑫源, 陈郁, 阳盛洪, 等. GTPase活性调节通路与中国塔吉克族高原原发性高血压疾病的遗传关联研究[J]. 第三军医大学学报, 2021,43(10):989-996.

Xinyuan LIU, Yu CHEN, Shenghong YANG, et al. Genetic association between regulation of GTPase activity pathway and high-altitude essential hypertension among Chinese Tajiks[J]. Journal of Third Military Medical University, 2021, 43(10): 989-996.
刘鑫源, 陈郁, 阳盛洪, 等. GTPase活性调节通路与中国塔吉克族高原原发性高血压疾病的遗传关联研究[J]. 第三军医大学学报, 2021,43(10):989-996. DOI： 10.16016/j.1000-5404.202012076.

Xinyuan LIU, Yu CHEN, Shenghong YANG, et al. Genetic association between regulation of GTPase activity pathway and high-altitude essential hypertension among Chinese Tajiks[J]. Journal of Third Military Medical University, 2021, 43(10): 989-996. DOI： 10.16016/j.1000-5404.202012076.

摘要

Abstract

Objective

To screen the single nucleotide polymorphism (SNP) loci and related genes that are significantly associated with essential hypertension among Chinese Tajiks by using exon sequencing and to reveal the unique essential hypertension related gene polymorphisms of the high-altitude minority.

Methods

A total of 62 Chinese Tajiks (26 in the control group and 36 in the hypertension group) from Tashkurgan County (in the east of Pamir Plateau)

Kashgar

Xinjiang Uygur Autonomous Region

in July 2017 were recruited in this study. Their venous blood were collected for DNA extraction to make exon sequencing. According to the significant differences in allele frequency distribution between the 2 groups

the SNP loci associated with essential hypertension were screened out. Finally

after the currently known hypertension-related genes were removed

enrichment analysis was carried out on the remaining genes to find out the most significant enrichment pathway

and the obtained top 5 significantly related SNP loci were further analyzed with genetic association analysis.

Results

A total of

6 739 SNP loci with statistically significant differences in allele frequency distribution between the 2 groups were screened out

and these loci were located on 3 646 genes in total. The remaining genes were significantly enriched in the regulation of GTPase activity pathway after the removal of currently known hypertension-related genes[log10(

)=-4.06

]

. Among them

the significantly related SNP loci and their genes were rs17261772(RAB3GAP1)

rs7319836(LRCH1)

and rs868188(ARHGEF11).

Conclusion

Regulation of GTPase activity pathway may be involved in the progression of essential hypertension among Chinese Tajiks. The mutation of rs17261772

rs7319836 and rs868188 on this pathway may have an important influence on the risk of hypertension to the high-altitude minority.

关键词

Keywords

references

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