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Genetic variants of FGFR family associated with height, hypertension, and osteoporosisopen access

Authors
Cho, Hye-WonJin, Hyun-SeokEom, Yong-Bin
Issue Date
Jan-2023
Publisher
Taylor & Francis
Keywords
FGFR family; FGFR3; hypertension; osteoporosis; replication study
Citation
Annals of Human Biology, v.50, no.1, pp 187 - 195
Pages
9
Journal Title
Annals of Human Biology
Volume
50
Number
1
Start Page
187
End Page
195
URI
https://scholarworks.bwise.kr/sch/handle/2021.sw.sch/24801
DOI
10.1080/03014460.2023.2187457
ISSN
0301-4460
1464-5033
Abstract
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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