{"title":"A cross-sectional study on the assessment of COLL11A1, VEGF, and GDF5 gene polymorphisms in Turkish patients with primary knee osteoarthritis.","authors":"Koksal Gundogdu, Yavuz Dodurga, Harun Resit Gungor, Gulsah Gundogdu, Semih Akkaya","doi":"10.1186/s12891-025-08396-3","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>This study aimed to assess the relationships between knee OA (KOA) and the genes encoding collagen type XI-alpha1 (COL11A1), vascular endothelial growth factor (VEGF), and growth differentiation factor-5 (GDF-5), which have recently been investigated for their role in the pathophysiology of KOA in a Turkish Population.</p><p><strong>Methods: </strong>This study included 100 patients who underwent surgery for KOA at Pamukkale University Medical Faculty's Orthopedics and Traumatology clinics and 100 volunteers with knee pain but without radiological evidence of KOA as a control group. Knee radiographs were assessed, and blood samples were collected from both groups for gene polymorphism analysis, with a focus on COL11A1 rs4907986, COL11A1 rs1241164, VEGF rs833058, and GDF5 rs143383.</p><p><strong>Results: </strong>Our findings revealed no statistically significant difference between the KOA and control groups for COL11A1 rs4907986 and rs1241164. However, COL11A1 rs4907986 was found to be more common in women. The VEGF rs833058 polymorphism did not significantly differ between the KOA and control groups, although the equal distribution of homozygous polymorphisms in both groups suggests its potential utility in diagnostic considerations. Similarly, no significant difference was observed for the GDF-5 rs143383 polymorphism. However, this polymorphism was more frequent than the wild type in both groups, suggesting its potential association with KOA and its possible utility as an early diagnostic marker.</p><p><strong>Conclusion: </strong>While no significant associations were found between COLL11A1, VEGF, or GDF-5 polymorphisms and KOA, the findings highlight the prevalence of GDF5 rs143383 in both groups, suggesting its potential role in the pathogenesis of KOA and its utility as a diagnostic marker. Further research is needed to better understand the genetic factors involved in KOA.</p><p><strong>Clinical trial number: </strong>Not applicable.</p>","PeriodicalId":9189,"journal":{"name":"BMC Musculoskeletal Disorders","volume":"26 1","pages":"153"},"PeriodicalIF":2.4000,"publicationDate":"2025-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11827129/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"BMC Musculoskeletal Disorders","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1186/s12891-025-08396-3","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"ORTHOPEDICS","Score":null,"Total":0}
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Abstract
Background: This study aimed to assess the relationships between knee OA (KOA) and the genes encoding collagen type XI-alpha1 (COL11A1), vascular endothelial growth factor (VEGF), and growth differentiation factor-5 (GDF-5), which have recently been investigated for their role in the pathophysiology of KOA in a Turkish Population.
Methods: This study included 100 patients who underwent surgery for KOA at Pamukkale University Medical Faculty's Orthopedics and Traumatology clinics and 100 volunteers with knee pain but without radiological evidence of KOA as a control group. Knee radiographs were assessed, and blood samples were collected from both groups for gene polymorphism analysis, with a focus on COL11A1 rs4907986, COL11A1 rs1241164, VEGF rs833058, and GDF5 rs143383.
Results: Our findings revealed no statistically significant difference between the KOA and control groups for COL11A1 rs4907986 and rs1241164. However, COL11A1 rs4907986 was found to be more common in women. The VEGF rs833058 polymorphism did not significantly differ between the KOA and control groups, although the equal distribution of homozygous polymorphisms in both groups suggests its potential utility in diagnostic considerations. Similarly, no significant difference was observed for the GDF-5 rs143383 polymorphism. However, this polymorphism was more frequent than the wild type in both groups, suggesting its potential association with KOA and its possible utility as an early diagnostic marker.
Conclusion: While no significant associations were found between COLL11A1, VEGF, or GDF-5 polymorphisms and KOA, the findings highlight the prevalence of GDF5 rs143383 in both groups, suggesting its potential role in the pathogenesis of KOA and its utility as a diagnostic marker. Further research is needed to better understand the genetic factors involved in KOA.
期刊介绍：
BMC Musculoskeletal Disorders is an open access, peer-reviewed journal that considers articles on all aspects of the prevention, diagnosis and management of musculoskeletal disorders, as well as related molecular genetics, pathophysiology, and epidemiology.
The scope of the Journal covers research into rheumatic diseases where the primary focus relates specifically to a component(s) of the musculoskeletal system.
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