Osteoporosis International最新文献

筛选
英文 中文
The effect of hypersensitive C-reactive protein to albumin ratio on the risk of fragility fracture in the Chinese male population.
IF 4.2 2区 医学
Osteoporosis International Pub Date : 2025-02-21 DOI: 10.1007/s00198-025-07428-x
Lu Guo, Nan Zhang, Xinhao Fan, Xiaoli Hou, Man Li, Wenqi Xu, Peipei Liu, Lei Xing, Jingyao Wang, Shuohua Chen, Shouling Wu, Faming Tian
{"title":"The effect of hypersensitive C-reactive protein to albumin ratio on the risk of fragility fracture in the Chinese male population.","authors":"Lu Guo, Nan Zhang, Xinhao Fan, Xiaoli Hou, Man Li, Wenqi Xu, Peipei Liu, Lei Xing, Jingyao Wang, Shuohua Chen, Shouling Wu, Faming Tian","doi":"10.1007/s00198-025-07428-x","DOIUrl":"https://doi.org/10.1007/s00198-025-07428-x","url":null,"abstract":"<p><p>This study explored the association between the hypersensitive C-reactive protein to albumin ratio (CAR) and fragility fractures in Chinese males. Results show that elevated levels of CAR were associated with an increased risk of fragility fractures and that this association was robust to adjustment for multiple potential confounders.</p><p><strong>Purpose: </strong>This study investigates the relationship between the hypersensitive C-reactive protein to albumin ratio (CAR) and fragility fractures in a Chinese male population.</p><p><strong>Methods: </strong>A total of 48,186 male participants (age range 18-98 years old, average age 53.92 years) at baseline were recruited from the Kailuan Study and followed up for outcomes until 2022. The Cox proportional hazards model was used to calculate hazard ratios (HRs) and 95% confidence intervals (CIs) for incident fragility fractures. The dose response between CAR and fracture risk was analyzed using restricted cubic splines. Additionally, the concordance index (C-index), net reclassification index (NRI), and integrated discrimination improvement (IDI) were utilized to assess the incremental predictive value of various indicators for the discrimination of fragility fractures.</p><p><strong>Results: </strong>During an average follow-up of 11.17 years, 728 incident fragility fractures occurred among the 48,186 participants. Compared to participants in the second quartile of CAR, those in the highest quartile had a 49% increased risk of fragility fractures (HR = 1.49, 95% CI = 1.21-1.84) after adjusting for risk factors. Restricted cubic spline analysis showed a nonlinear relationship between CAR and the risk of fragility fractures. The C-index, continuous NRI, and IDI for predicting the risk of fragility fractures were 61.142%, 0.089 (p < 0.05), and 0.00009 (p < 0.05), respectively, which were higher than those of hs-CRP (C-index 0.6137, NRI 0.086, IDI 0.000074) and albumin (C- index 0.6116, NRI 0.068, IDI - 0.000004).</p><p><strong>Conclusion: </strong>Elevated levels of CAR were associated with an increased risk of fragility fractures and that this association was robust to adjustment for multiple potential confounders.</p>","PeriodicalId":19638,"journal":{"name":"Osteoporosis International","volume":" ","pages":""},"PeriodicalIF":4.2,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143468291","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Author response to the letter to the editor "Comment on: The risk of fragility fractures in men with prostate cancer treated with androgen deprivation therapy" (OSIN-D-24-01632).
IF 4.2 2区 医学
Osteoporosis International Pub Date : 2025-02-16 DOI: 10.1007/s00198-024-07331-x
M M van Oostwaard, J P van den Bergh, C E Wyers
{"title":"Author response to the letter to the editor \"Comment on: The risk of fragility fractures in men with prostate cancer treated with androgen deprivation therapy\" (OSIN-D-24-01632).","authors":"M M van Oostwaard, J P van den Bergh, C E Wyers","doi":"10.1007/s00198-024-07331-x","DOIUrl":"https://doi.org/10.1007/s00198-024-07331-x","url":null,"abstract":"","PeriodicalId":19638,"journal":{"name":"Osteoporosis International","volume":" ","pages":""},"PeriodicalIF":4.2,"publicationDate":"2025-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143425633","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Rheumatoid arthritis and subsequent fracture risk: an individual person meta-analysis to update FRAX.
IF 4.2 2区 医学
Osteoporosis International Pub Date : 2025-02-16 DOI: 10.1007/s00198-025-07397-1
John A Kanis, Helena Johansson, Eugene V McCloskey, Enwu Liu, Marian Schini, Liesbeth Vandenput, Kristina E Åkesson, Fred A Anderson, Rafael Azagra, Cecilie L Bager, Charlotte Beaudart, Heike A Bischoff-Ferrari, Emmanuel Biver, Olivier Bruyère, Jane A Cauley, Jacqueline R Center, Roland Chapurlat, Claus Christiansen, Cyrus Cooper, Carolyn J Crandall, Steven R Cummings, José A P da Silva, Bess Dawson-Hughes, Adolfo Diez-Perez, Alyssa B Dufour, John A Eisman, Petra J M Elders, Serge Ferrari, Yuki Fujita, Saeko Fujiwara, Claus-Christian Glüer, Inbal Goldshtein, David Goltzman, Vilmundur Gudnason, Jill Hall, Didier Hans, Mari Hoff, Rosemary J Hollick, Martijn Huisman, Masayuki Iki, Sophia Ish-Shalom, Graeme Jones, Magnus K Karlsson, Sundeep Khosla, Douglas P Kiel, Woon-Puay Koh, Fjorda Koromani, Mark A Kotowicz, Heikki Kröger, Timothy Kwok, Olivier Lamy, Arnulf Langhammer, Bagher Larijani, Kurt Lippuner, Fiona E A McGuigan, Dan Mellström, Thomas Merlijn, Tuan V Nguyen, Anna Nordström, Peter Nordström, Terence W O Neill, Barbara Obermayer-Pietsch, Claes Ohlsson, Eric S Orwoll, Julie A Pasco, Fernando Rivadeneira, Anne-Marie Schott, Eric J Shiroma, Kristin Siggeirsdottir, Eleanor M Simonsick, Elisabeth Sornay-Rendu, Reijo Sund, Karin Swart, Pawel Szulc, Junko Tamaki, David J Torgerson, Natasja M van Schoor, Tjeerd P van Staa, Joan Vila, Nicole C Wright, Noriko Yoshimura, M Carola Zillikens, Marta Zwart, Nicholas C Harvey, Mattias Lorentzon, William D Leslie
{"title":"Rheumatoid arthritis and subsequent fracture risk: an individual person meta-analysis to update FRAX.","authors":"John A Kanis, Helena Johansson, Eugene V McCloskey, Enwu Liu, Marian Schini, Liesbeth Vandenput, Kristina E Åkesson, Fred A Anderson, Rafael Azagra, Cecilie L Bager, Charlotte Beaudart, Heike A Bischoff-Ferrari, Emmanuel Biver, Olivier Bruyère, Jane A Cauley, Jacqueline R Center, Roland Chapurlat, Claus Christiansen, Cyrus Cooper, Carolyn J Crandall, Steven R Cummings, José A P da Silva, Bess Dawson-Hughes, Adolfo Diez-Perez, Alyssa B Dufour, John A Eisman, Petra J M Elders, Serge Ferrari, Yuki Fujita, Saeko Fujiwara, Claus-Christian Glüer, Inbal Goldshtein, David Goltzman, Vilmundur Gudnason, Jill Hall, Didier Hans, Mari Hoff, Rosemary J Hollick, Martijn Huisman, Masayuki Iki, Sophia Ish-Shalom, Graeme Jones, Magnus K Karlsson, Sundeep Khosla, Douglas P Kiel, Woon-Puay Koh, Fjorda Koromani, Mark A Kotowicz, Heikki Kröger, Timothy Kwok, Olivier Lamy, Arnulf Langhammer, Bagher Larijani, Kurt Lippuner, Fiona E A McGuigan, Dan Mellström, Thomas Merlijn, Tuan V Nguyen, Anna Nordström, Peter Nordström, Terence W O Neill, Barbara Obermayer-Pietsch, Claes Ohlsson, Eric S Orwoll, Julie A Pasco, Fernando Rivadeneira, Anne-Marie Schott, Eric J Shiroma, Kristin Siggeirsdottir, Eleanor M Simonsick, Elisabeth Sornay-Rendu, Reijo Sund, Karin Swart, Pawel Szulc, Junko Tamaki, David J Torgerson, Natasja M van Schoor, Tjeerd P van Staa, Joan Vila, Nicole C Wright, Noriko Yoshimura, M Carola Zillikens, Marta Zwart, Nicholas C Harvey, Mattias Lorentzon, William D Leslie","doi":"10.1007/s00198-025-07397-1","DOIUrl":"https://doi.org/10.1007/s00198-025-07397-1","url":null,"abstract":"<p><p>The relationship between rheumatoid arthritis (RA) and fracture risk was estimated in an international meta-analysis of individual-level data from 29 prospective cohorts. RA was associated with an increased fracture risk in men and women, and these data will be used to update FRAX®.</p><p><strong>Introduction: </strong>RA is a well-documented risk factor for subsequent fracture that is incorporated into the FRAX algorithm. The aim of this study was to evaluate, in an international meta-analysis, the association between rheumatoid arthritis and subsequent fracture risk and its relation to sex, age, duration of follow-up, and bone mineral density (BMD) with a view to updating FRAX.</p><p><strong>Methods: </strong>The resource comprised 1,909,896 men and women, aged 20-116 years, from 29 prospective cohorts in which the prevalence of RA was 3% or less (primary analysis) and an additional 17 cohorts with a prevalence greater than 3% (supplementary analysis). The association between RA and fracture risk (any clinical fracture, osteoporotic fracture, major osteoporotic fracture (MOF), and hip fracture) was examined using an extension of the Poisson regression model in each cohort and each sex, followed by random-effects meta-analyses of the weighted beta coefficients.</p><p><strong>Results: </strong>In the primary analysis, RA was reported in 1.3% of individuals. During 15,683,133 person-years of follow-up, 139,002 fractures occurred, of which 27,518 were hip fractures. RA was associated with an increased risk of any clinical fracture (hazard ratio [HR] 1.49, 95% confidence interval [CI] 1.35-1.65). The HRs were of similar magnitude for osteoporotic fracture and MOF but higher for hip fracture (HR = 2.23; 95% CI 1.85-2.69). For hip fracture, there was a significant interaction with age with higher HRs at younger ages. HRs did not differ between men and women and were independent of exposure to glucocorticoids and femoral neck BMD. Lower HRs were observed in the supplementary analysis cohorts, particularly in those with a high apparent prevalence of RA, possibly from conflation of RA with osteoarthritis.</p><p><strong>Conclusions: </strong>A diagnosis of RA confers an increased risk of fracture that is largely independent of BMD, sex, and corticosteroids. RA should be retained as a risk factor in future iterations of FRAX with updated risk functions to improve fracture risk prediction.</p>","PeriodicalId":19638,"journal":{"name":"Osteoporosis International","volume":" ","pages":""},"PeriodicalIF":4.2,"publicationDate":"2025-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143425641","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Skeletal health status among patients with chronic hypoparathyroidism: results from the Canadian National Hypoparathyroidism Registry (CNHR).
IF 4.2 2区 医学
Osteoporosis International Pub Date : 2025-02-16 DOI: 10.1007/s00198-025-07410-7
Aliya A Khan, Hajar AbuAlrob, Dalal S Ali, Zayd Al Kassem, Abdulrahman Almoulia, Habiba Afifi, Manoela Braga, Alice Cheng, Jouma Malhem, Adam Millar, Emmett Morgante, Parwana Muhammad, Terri L Paul, Ally Prebtani, Zubin Punthakee, Tayyab Khan, Sarah Khan, Muhammad Shrayyef, Stan Van Uum, James Edward Massey Young, Maria Luisa Brandi, Michel Ovize, Blandine Weiss
{"title":"Skeletal health status among patients with chronic hypoparathyroidism: results from the Canadian National Hypoparathyroidism Registry (CNHR).","authors":"Aliya A Khan, Hajar AbuAlrob, Dalal S Ali, Zayd Al Kassem, Abdulrahman Almoulia, Habiba Afifi, Manoela Braga, Alice Cheng, Jouma Malhem, Adam Millar, Emmett Morgante, Parwana Muhammad, Terri L Paul, Ally Prebtani, Zubin Punthakee, Tayyab Khan, Sarah Khan, Muhammad Shrayyef, Stan Van Uum, James Edward Massey Young, Maria Luisa Brandi, Michel Ovize, Blandine Weiss","doi":"10.1007/s00198-025-07410-7","DOIUrl":"https://doi.org/10.1007/s00198-025-07410-7","url":null,"abstract":"<p><p>In the CNHR study, 35% of postmenopausal women had osteoporosis by BMD or fragility fracture, and 4% had both. Three men ≥ 50 had osteoporosis by BMD or fragility fracture (33.3%; n = 3/9). This suggests that close follow-up of skeletal health is necessary in postmenopausal women, and men ≥ 50 with chronic HypoPT.</p><p><strong>Purpose: </strong>Chronic hypoparathyroidism (HypoPT) has been associated with decreased bone turnover and abnormalities in bone mineral density (BMD), microarchitecture, and strength. Current guidelines do not recommend systematic evaluation of skeletal health in patients with chronic HypoPT. Our study assessed skeletal health in pre- and postmenopausal women with chronic HypoPT and adult men.</p><p><strong>Methods: </strong>This prospective study enrolled adults with chronic HypoPT from the Canadian National Hypoparathyroidism Registry. Clinical characteristics, bone fractures, biochemistry, and serum bone biomarkers were assessed at baseline. Skeletal health evaluation included assessments of fragility fractures, BMD at lumbar spine (LS), femoral neck (FN), total hip (TH), 1/3 radial sites, trabecular bone score (TBS), and bone biomarkers.</p><p><strong>Results: </strong>We present the baseline data of the patients enrolled in the registry. We analyzed a total of 101 patients: 18 men, 35 premenopausal, and 48 postmenopausal women. The mean (SD) age at the onset of HypoPT was 40.7 (16.8) years, and the average disease duration was 11.2 (8.6) years. The most common etiology was postsurgical (74.3% vs. 25.7% non-surgical). Most patients received calcium supplements (89%) and active vitamin D (80%) at baseline. No fragility fractures or low BMD were reported in premenopausal women. However, BMD at LS, FN, TH, and TBS were significantly lower in postmenopausal compared to premenopausal women.</p><p><strong>Conclusions: </strong>Overall, 35% of postmenopausal women had osteoporosis by BMD or prior fragility fracture, and 4% had both. Three men ≥ 50 years had osteoporosis by BMD or fragility fracture (33.3%; n = 3/9). This study suggests that close follow-up of skeletal health is necessary in postmenopausal women with chronic HypoPT and men ≥ 50 years.</p>","PeriodicalId":19638,"journal":{"name":"Osteoporosis International","volume":" ","pages":""},"PeriodicalIF":4.2,"publicationDate":"2025-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143425746","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Comment on: The risk of fragility fractures in men with prostate cancer treated with androgen deprivation therapy.
IF 4.2 2区 医学
Osteoporosis International Pub Date : 2025-02-16 DOI: 10.1007/s00198-024-07329-5
Shangxian Pan, Kuangyang Yang, Kexin Wang
{"title":"Comment on: The risk of fragility fractures in men with prostate cancer treated with androgen deprivation therapy.","authors":"Shangxian Pan, Kuangyang Yang, Kexin Wang","doi":"10.1007/s00198-024-07329-5","DOIUrl":"https://doi.org/10.1007/s00198-024-07329-5","url":null,"abstract":"","PeriodicalId":19638,"journal":{"name":"Osteoporosis International","volume":" ","pages":""},"PeriodicalIF":4.2,"publicationDate":"2025-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143425634","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Author response to: OSIN-D-24-01894 comment on "Osteoporosis in older patients with idiopathic normal pressure hydrocephalus".
IF 4.2 2区 医学
Osteoporosis International Pub Date : 2025-02-12 DOI: 10.1007/s00198-025-07387-3
Mehmet Selman Ontan, Ahmet Turan Isik
{"title":"Author response to: OSIN-D-24-01894 comment on \"Osteoporosis in older patients with idiopathic normal pressure hydrocephalus\".","authors":"Mehmet Selman Ontan, Ahmet Turan Isik","doi":"10.1007/s00198-025-07387-3","DOIUrl":"https://doi.org/10.1007/s00198-025-07387-3","url":null,"abstract":"","PeriodicalId":19638,"journal":{"name":"Osteoporosis International","volume":" ","pages":""},"PeriodicalIF":4.2,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143399686","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Comment on "Osteoporosis in older patients with idiopathic normal pressure hydrocephalus".
IF 4.2 2区 医学
Osteoporosis International Pub Date : 2025-02-11 DOI: 10.1007/s00198-025-07416-1
Shengyang Mo, Yanzhong Gu
{"title":"Comment on \"Osteoporosis in older patients with idiopathic normal pressure hydrocephalus\".","authors":"Shengyang Mo, Yanzhong Gu","doi":"10.1007/s00198-025-07416-1","DOIUrl":"https://doi.org/10.1007/s00198-025-07416-1","url":null,"abstract":"","PeriodicalId":19638,"journal":{"name":"Osteoporosis International","volume":" ","pages":""},"PeriodicalIF":4.2,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143391429","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Rethinking sunlight: balancing the benefits of sun exposure and vitamin D supplementation.
IF 4.2 2区 医学
Osteoporosis International Pub Date : 2025-02-07 DOI: 10.1007/s00198-025-07420-5
Berkay Yalçınkaya, Hilmi Berkan Abacıoğlu, Ahmet Furkan Çolak, Alp Çetin
{"title":"Rethinking sunlight: balancing the benefits of sun exposure and vitamin D supplementation.","authors":"Berkay Yalçınkaya, Hilmi Berkan Abacıoğlu, Ahmet Furkan Çolak, Alp Çetin","doi":"10.1007/s00198-025-07420-5","DOIUrl":"https://doi.org/10.1007/s00198-025-07420-5","url":null,"abstract":"","PeriodicalId":19638,"journal":{"name":"Osteoporosis International","volume":" ","pages":""},"PeriodicalIF":4.2,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143365375","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Identifying proximal humerus fractures: an algorithmic approach using registers and radiological visit data.
IF 4.2 2区 医学
Osteoporosis International Pub Date : 2025-02-07 DOI: 10.1007/s00198-025-07414-3
Tomi Nissinen, Reijo Sund, Sanna Suoranta, Heikki Kröger, Sami P Väänänen
{"title":"Identifying proximal humerus fractures: an algorithmic approach using registers and radiological visit data.","authors":"Tomi Nissinen, Reijo Sund, Sanna Suoranta, Heikki Kröger, Sami P Väänänen","doi":"10.1007/s00198-025-07414-3","DOIUrl":"https://doi.org/10.1007/s00198-025-07414-3","url":null,"abstract":"<p><p>In this study, we show that combining register and radiological visit data enables more accurate automated identification of proximal humerus fractures compared to traditional register analysis. In a cohort of 11,863 post-menopausal women, our proposed approach improved the coverage of identified fractures from 74 to 81%.</p><p><strong>Purpose: </strong>The aim of this study was to investigate how reliably proximal humerus fractures can be identified from different administrative datasets without manual review.</p><p><strong>Method: </strong>Using the national medical registers, namely the Care Register for Health Care and the Register for Primary Health Care Visits, as well as the regional radiological image archive PACS, we developed algorithms for automated identification of proximal humerus fractures. In addition to these sources, we used data from patient records as well as from the self-reports gathered by the Kuopio Osteoporosis Risk Factor and Prevention Study (OSTPRE) to establish a gold standard of fractures for validating the algorithms. This gold standard included proximal humerus fractures for a cohort of 11,863 post-menopausal women living in the Kuopio region between 2004 and 2022.</p><p><strong>Results: </strong>We report the national registers' yearly accuracy in identifying proximal humerus fractures. During the studied 19-year period, the registers' coverage initially improved but then settled at 75%. We show that the image archive provides almost complete coverage of radiographs for the fracture cases, but excluding false positives poses a challenge. In addition, we propose a simple approach that combines register and radiography visit data to improve the accuracy of automated fracture identification. Our algorithm improves the coverage from 74 to 81% and reduces the false discovery rate from 8 to 7% compared to the traditional register analysis.</p><p><strong>Conclusion: </strong>The proposed approach enables a more reliable way of identifying proximal humerus fractures from administrative data. This study contributes to the objective of automatically tracking all types of fragility fractures in large datasets.</p>","PeriodicalId":19638,"journal":{"name":"Osteoporosis International","volume":" ","pages":""},"PeriodicalIF":4.2,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143365307","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Identifying rare variants in genes related to bone phenotypes in a cohort of postmenopausal women.
IF 4.2 2区 医学
Osteoporosis International Pub Date : 2025-02-07 DOI: 10.1007/s00198-025-07413-4
J D Patiño-Salazar, D Ovejero, M Gabernet, N Martínez-Gil, E Alcaide-Consuegra, L Mellibovsky, X Nogués, D Grinberg, S Balcells, R Rabionet, N Garcia-Giralt
{"title":"Identifying rare variants in genes related to bone phenotypes in a cohort of postmenopausal women.","authors":"J D Patiño-Salazar, D Ovejero, M Gabernet, N Martínez-Gil, E Alcaide-Consuegra, L Mellibovsky, X Nogués, D Grinberg, S Balcells, R Rabionet, N Garcia-Giralt","doi":"10.1007/s00198-025-07413-4","DOIUrl":"https://doi.org/10.1007/s00198-025-07413-4","url":null,"abstract":"<p><p>Rare genetic variants in genes previously described to be involved in bone monogenic disorders were identified in postmenopausal women split into two groups according to extreme bone mineral density (BMD) values and lumbar spine Z-scores. A pathogenic variant in COL1A2 gene found in a woman with low BMD highlights the overlap between osteogenesis imperfecta and osteoporosis, which may share their genetic etiology. Other variants were not clearly associated with the extreme BMD, suggesting that there is little contribution of rare variants to postmenopausal osteoporosis.</p><p><strong>Purpose: </strong>We aimed to evaluate whether extreme values of bone mineral density (BMD) in a population-based cohort of postmenopausal women (BARCOS) could be determined by rare genetic variants in genes related to monogenic bone disorders.</p><p><strong>Methods: </strong>A panel of 127 genes related to different skeletal phenotypes was designed. Massive sequencing by targeted capture of these genes was performed in 104 DNA samples from those women of the BARCOS cohort that exhibited the highest (HZ group) and lowest (LZ group) LS Z-scores, ranging from + 0.70 to + 3.80 and from - 2.35 to - 4.26, respectively. 5'UTR, 3'UTR, splice region, missense, nonsense, and short indel variants with MAF < 0.01 were annotated with CADD version 1.6 and considered in the analysis.</p><p><strong>Results: </strong>After filtering those variants with CADD > 25 and present only in one of the groups (either LZ or HZ), six variants were detected, most of which (5/6) were in the LZ group in TCIRG1, COL1A2, SEC24D, LRP4, and ANO5 genes, while only one, in the LMNA gene, was in the HZ group. According to the ClinVar database, the COL1A2 variant, causative of a recessive form of osteogenesis imperfecta, is described as pathogenic, while the other variants are considered of uncertain significance (VUS).</p><p><strong>Conclusion: </strong>The variant identified in COL1A2 in a woman from the LZ group highlights the genetic overlap between monogenic diseases such as osteogenesis imperfecta and complex diseases like osteoporosis. However, the other variants were not clearly associated with the extreme BMD, suggesting that there is little contribution of rare variants to postmenopausal osteoporosis.</p>","PeriodicalId":19638,"journal":{"name":"Osteoporosis International","volume":" ","pages":""},"PeriodicalIF":4.2,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143365310","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信