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Germline VWF/MPRIP and somatoplasm FGA variants synergically confer susceptibility to non-traumatic osteonecrosis of the femoral head
Non-traumatic osteonecrosis of the femoral head (ONFH) relies on multiple pathogenic factors, including intravascular coagulation, osteoporosis and lipid metabolism disorders. Despite extensively explored from various aspects, genetic mechanism underlying non-traumatic ONFH has not been fully elucid...
Autores principales: | , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9946931/ https://www.ncbi.nlm.nih.gov/pubmed/36813871 http://dx.doi.org/10.1038/s41598-023-30260-4 |
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author | Wang, Dawei Gu, Longchao Zheng, Juan Zhang, Qiang Xu, Qi Li, Rongrong Song, Da Ha, Chengzhi Zhang, Qianqian Yin, Han Xu, Mingtao Wang, Hongmin Li, Wei Yuan, Zhengfeng Yang, Cuncun Gu, Mingliang |
author_facet | Wang, Dawei Gu, Longchao Zheng, Juan Zhang, Qiang Xu, Qi Li, Rongrong Song, Da Ha, Chengzhi Zhang, Qianqian Yin, Han Xu, Mingtao Wang, Hongmin Li, Wei Yuan, Zhengfeng Yang, Cuncun Gu, Mingliang |
author_sort | Wang, Dawei |
collection | PubMed |
description | Non-traumatic osteonecrosis of the femoral head (ONFH) relies on multiple pathogenic factors, including intravascular coagulation, osteoporosis and lipid metabolism disorders. Despite extensively explored from various aspects, genetic mechanism underlying non-traumatic ONFH has not been fully elucidated. We randomly collected blood and necrotic tissue samples from 32 patients with non-traumatic ONFH as well as blood samples from 30 healthy individuals for whole exome sequencing (WES). Germline mutation and somatic mutation were analyzed to identify new potential pathogenic genes responsible for non-traumatic ONFH. Three genes might correlate with non-traumatic ONFH: VWF, MPRIP (germline mutations) and FGA (somatic mutations). Germline or somatic mutations in VWF, MPRIP and FGA correlate with intravascular coagulation, thrombosis, and consequently, ischemic necrosis of the femoral head. |
format | Online Article Text |
id | pubmed-9946931 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Nature Publishing Group UK |
record_format | MEDLINE/PubMed |
spelling | pubmed-99469312023-02-24 Germline VWF/MPRIP and somatoplasm FGA variants synergically confer susceptibility to non-traumatic osteonecrosis of the femoral head Wang, Dawei Gu, Longchao Zheng, Juan Zhang, Qiang Xu, Qi Li, Rongrong Song, Da Ha, Chengzhi Zhang, Qianqian Yin, Han Xu, Mingtao Wang, Hongmin Li, Wei Yuan, Zhengfeng Yang, Cuncun Gu, Mingliang Sci Rep Article Non-traumatic osteonecrosis of the femoral head (ONFH) relies on multiple pathogenic factors, including intravascular coagulation, osteoporosis and lipid metabolism disorders. Despite extensively explored from various aspects, genetic mechanism underlying non-traumatic ONFH has not been fully elucidated. We randomly collected blood and necrotic tissue samples from 32 patients with non-traumatic ONFH as well as blood samples from 30 healthy individuals for whole exome sequencing (WES). Germline mutation and somatic mutation were analyzed to identify new potential pathogenic genes responsible for non-traumatic ONFH. Three genes might correlate with non-traumatic ONFH: VWF, MPRIP (germline mutations) and FGA (somatic mutations). Germline or somatic mutations in VWF, MPRIP and FGA correlate with intravascular coagulation, thrombosis, and consequently, ischemic necrosis of the femoral head. Nature Publishing Group UK 2023-02-22 /pmc/articles/PMC9946931/ /pubmed/36813871 http://dx.doi.org/10.1038/s41598-023-30260-4 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Article Wang, Dawei Gu, Longchao Zheng, Juan Zhang, Qiang Xu, Qi Li, Rongrong Song, Da Ha, Chengzhi Zhang, Qianqian Yin, Han Xu, Mingtao Wang, Hongmin Li, Wei Yuan, Zhengfeng Yang, Cuncun Gu, Mingliang Germline VWF/MPRIP and somatoplasm FGA variants synergically confer susceptibility to non-traumatic osteonecrosis of the femoral head |
title | Germline VWF/MPRIP and somatoplasm FGA variants synergically confer susceptibility to non-traumatic osteonecrosis of the femoral head |
title_full | Germline VWF/MPRIP and somatoplasm FGA variants synergically confer susceptibility to non-traumatic osteonecrosis of the femoral head |
title_fullStr | Germline VWF/MPRIP and somatoplasm FGA variants synergically confer susceptibility to non-traumatic osteonecrosis of the femoral head |
title_full_unstemmed | Germline VWF/MPRIP and somatoplasm FGA variants synergically confer susceptibility to non-traumatic osteonecrosis of the femoral head |
title_short | Germline VWF/MPRIP and somatoplasm FGA variants synergically confer susceptibility to non-traumatic osteonecrosis of the femoral head |
title_sort | germline vwf/mprip and somatoplasm fga variants synergically confer susceptibility to non-traumatic osteonecrosis of the femoral head |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9946931/ https://www.ncbi.nlm.nih.gov/pubmed/36813871 http://dx.doi.org/10.1038/s41598-023-30260-4 |
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