FGFR家族与身高、高血压和骨质疏松相关的遗传变异

IF 1.2 4区 医学 Q2 ANTHROPOLOGY Annals of Human Biology Pub Date : 2023-02-01 DOI:10.1080/03014460.2023.2187457
Hye-Won Cho, Hyun-Seok Jin, Yong-Bin Eom
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引用次数: 0

摘要

背景:高血压和骨质疏松是最常见的健康问题。最近的一项研究表明,长颈鹿的成纤维细胞生长因子受体样蛋白1 (FGFRL1)基因是最有希望的候选基因,可能对骨骼和心血管系统都有直接影响。目的:我们的研究旨在重复FGFR5基因与长颈鹿相关特征(身高、高血压和骨质疏松症)相关的发现,并评估FGFR家族遗传变异与三种表型之间的关联。研究对象和方法:进行了一项关联研究,以确认高血压、骨质疏松症和身高与FGFR家族蛋白(FGFR1至FGFR5)之间的联系。结果:我们在FGFR家族中共鉴定了192个遗传变异,并在FGFR2、FGFR3和FGFR4基因中发现了6个snv,这些snv同时与两种表型相关。此外,FGFR家族被发现参与钙信号传导,FGFR3基因的三种遗传变异在垂体和下丘脑中显示出显著的信号。结论:综上所述,这些发现表明FGFR基因与高血压、身高和骨质疏松症有关。特别是,本研究强调了FGFR3基因,它影响骨重塑的两个基本调节因子。
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Genetic variants of FGFR family associated with height, hypertension, and osteoporosis.

Background: Hypertension and osteoporosis are the most common types of health problems. A recent study suggested that the fibroblast growth factor receptor-like protein 1 (FGFRL1) gene in giraffes is the most promising candidate gene that may have direct effects on both the skeleton and the cardiovascular system.

Aim: Our study purposed to replicate the finding that the FGFR5 gene is related to giraffe-related characteristics (height, hypertension, and osteoporosis), and to assess the associations between genetic variants of the FGFR family and three phenotypes.

Subjects and methods: An association study was performed to confirm the connections between hypertension, osteoporosis, and height and the FGFR family proteins (FGFR1 to FGFR5).

Results: We identified a total of 192 genetic variants in the FGFR family and found six SNVs in the FGFR2, FGFR3, and FGFR4 genes that were associated with two phenotypes simultaneously. Also, the FGFR family was found to be involved in calcium signalling, and three genetic variants of the FGFR3 gene showed significant signals in the pituitary and hypothalamus.

Conclusion: Taken together, these findings suggest that FGFR genes are associated with hypertension, height, and osteoporosis. In particular, the present study highlights the FGFR3 gene, which influences two fundamental regulators of bone remodelling.

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来源期刊
Annals of Human Biology
Annals of Human Biology 生物-公共卫生、环境卫生与职业卫生
CiteScore
3.40
自引率
5.90%
发文量
46
审稿时长
1 months
期刊介绍: Annals of Human Biology is an international, peer-reviewed journal published six times a year in electronic format. The journal reports investigations on the nature, development and causes of human variation, embracing the disciplines of human growth and development, human genetics, physical and biological anthropology, demography, environmental physiology, ecology, epidemiology and global health and ageing research.
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