{"title":"FGFR家族与身高、高血压和骨质疏松相关的遗传变异","authors":"Hye-Won Cho, Hyun-Seok Jin, Yong-Bin Eom","doi":"10.1080/03014460.2023.2187457","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Hypertension and osteoporosis are the most common types of health problems. A recent study suggested that the fibroblast growth factor receptor-like protein 1 (<i>FGFRL1</i>) gene in giraffes is the most promising candidate gene that may have direct effects on both the skeleton and the cardiovascular system.</p><p><strong>Aim: </strong>Our study purposed to replicate the finding that the <i>FGFR5</i> gene is related to giraffe-related characteristics (height, hypertension, and osteoporosis), and to assess the associations between genetic variants of the <i>FGFR</i> family and three phenotypes.</p><p><strong>Subjects and methods: </strong>An association study was performed to confirm the connections between hypertension, osteoporosis, and height and the <i>FGFR</i> family proteins (<i>FGFR1</i> to <i>FGFR5</i>).</p><p><strong>Results: </strong>We identified a total of 192 genetic variants in the <i>FGFR</i> family and found six SNVs in the <i>FGFR2</i>, <i>FGFR3</i>, and <i>FGFR4</i> genes that were associated with two phenotypes simultaneously. Also, the <i>FGFR</i> family was found to be involved in calcium signalling, and three genetic variants of the <i>FGFR3</i> gene showed significant signals in the pituitary and hypothalamus.</p><p><strong>Conclusion: </strong>Taken together, these findings suggest that <i>FGFR</i> genes are associated with hypertension, height, and osteoporosis. In particular, the present study highlights the <i>FGFR3</i> gene, which influences two fundamental regulators of bone remodelling.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":null,"pages":null},"PeriodicalIF":1.2000,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Genetic variants of <i>FGFR</i> family associated with height, hypertension, and osteoporosis.\",\"authors\":\"Hye-Won Cho, Hyun-Seok Jin, Yong-Bin Eom\",\"doi\":\"10.1080/03014460.2023.2187457\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Hypertension and osteoporosis are the most common types of health problems. A recent study suggested that the fibroblast growth factor receptor-like protein 1 (<i>FGFRL1</i>) gene in giraffes is the most promising candidate gene that may have direct effects on both the skeleton and the cardiovascular system.</p><p><strong>Aim: </strong>Our study purposed to replicate the finding that the <i>FGFR5</i> gene is related to giraffe-related characteristics (height, hypertension, and osteoporosis), and to assess the associations between genetic variants of the <i>FGFR</i> family and three phenotypes.</p><p><strong>Subjects and methods: </strong>An association study was performed to confirm the connections between hypertension, osteoporosis, and height and the <i>FGFR</i> family proteins (<i>FGFR1</i> to <i>FGFR5</i>).</p><p><strong>Results: </strong>We identified a total of 192 genetic variants in the <i>FGFR</i> family and found six SNVs in the <i>FGFR2</i>, <i>FGFR3</i>, and <i>FGFR4</i> genes that were associated with two phenotypes simultaneously. Also, the <i>FGFR</i> family was found to be involved in calcium signalling, and three genetic variants of the <i>FGFR3</i> gene showed significant signals in the pituitary and hypothalamus.</p><p><strong>Conclusion: </strong>Taken together, these findings suggest that <i>FGFR</i> genes are associated with hypertension, height, and osteoporosis. In particular, the present study highlights the <i>FGFR3</i> gene, which influences two fundamental regulators of bone remodelling.</p>\",\"PeriodicalId\":50765,\"journal\":{\"name\":\"Annals of Human Biology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.2000,\"publicationDate\":\"2023-02-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annals of Human Biology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1080/03014460.2023.2187457\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"ANTHROPOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annals of Human Biology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/03014460.2023.2187457","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"ANTHROPOLOGY","Score":null,"Total":0}
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.
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.