ADAMTS14/rs4747096 基因多态性与一些危险因素和膝骨关节炎的关系。

The association between ADAMTS14/rs4747096 gene polymorphism and some risk factors and knee osteoarthritis.

机构信息

Community Medicine Research Department, Medical Research and Clinical Studies Institute, National Research Centre, Dokki, P.O. 12622, Giza, Egypt.

Clinical & Chemical Pathology Department, Medical Research and Clinical Studies Institute,, National Research Centre, Dokki, P.O. 12622, Giza, Egypt.

出版信息

BMC Musculoskelet Disord. 2024 Oct 30;25(1):867. doi: 10.1186/s12891-024-07943-8.

DOI:10.1186/s12891-024-07943-8

PMID:39472918

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11523595/

Abstract

Knee osteoarthritis (KOA) is an important cause of disability in the world and it denotes a public health defiance of the upcoming years.Aim To examine the connection between ADAMTS14 gene rs4747096 polymorphism and KOA and to assess risk factors associated with KOA.Methods A case control study was conducted on 158 patients with KOA and 120 controls with comparable age and sex randomly recruited from National Research Centre employees. All participants were subjected to full history taking, assessment of KOA severity using WOMAC scoring system, and thorough clinical examination. Blood sample was collected for detection of ADAMTS14/rs4747096 gene polymorphism.Results The frequency of ADAMTS14 gene rs4747096 genotypes among patients with KOA was 73.5% for AA, 25.7% for AG, and 0.7% for GG compared to controls 963%, 31.3%, and 5.6% respectively and the frequency of alleles among patients was 86.4% for A and 78.7% for G compared to controls (78.7% and 21.3% respectively, P < 0.05. The study found that the median levels of total WOMAC score and its domains were significantly higher among KOA patients than controls. The logistic regression analysis revealed that age ≥ 50 years, BMI ≥ 35, and long standing at work were predictive factors for KOA (P < 0.05). Regarding different genetic patterns, only the A recessive pattern of inheritance was found to be a predictive risk factor for KOA.Conclusion For ADAMTS14 rs4747096 genotype, the AA and AG genotypes significantly increased the risk of KOA. The recessive pattern of inheritance, older age, morbid obesity, and prolonged standing at work were the predictive risk factors for KOA. Further studies with larger sample size are encouraged to investigate the mechanism by which this genotype can affect the development of KOA.

摘要

膝骨关节炎（KOA）是世界上导致残疾的一个重要原因，也是未来几年公共卫生领域面临的一个重大挑战。目的：研究 ADAMTS14 基因 rs4747096 多态性与 KOA 的关系，并评估与 KOA 相关的危险因素。方法：采用病例对照研究，选取 158 例 KOA 患者和 120 例年龄、性别相匹配的 National Research Centre 员工作为对照组。所有参与者均接受详细的病史采集、WOMAC 评分系统评估 KOA 严重程度和全面的临床检查。采集血样检测 ADAMTS14/rs4747096 基因多态性。结果：KOA 患者 ADAMTS14 基因 rs4747096 基因型频率分别为 AA 占 73.5%、AG 占 25.7%、GG 占 0.7%，对照组分别为 96.3%、31.3%、5.6%，等位基因频率分别为 A 占 86.4%、G 占 78.7%，对照组分别为 78.7%、21.3%，两组比较差异有统计学意义（P < 0.05）。KOA 患者的 WOMAC 总分及各维度评分中位数均显著高于对照组。多因素 logistic 回归分析显示，年龄≥50 岁、BMI≥35、长期站立工作是 KOA 的预测因素（P < 0.05）。在不同的遗传模式中，仅发现 A 隐性遗传模式是 KOA 的预测危险因素。结论：对于 ADAMTS14 rs4747096 基因型，AA 和 AG 基因型显著增加了 KOA 的发病风险。隐性遗传模式、年龄较大、病态肥胖和长期站立工作是 KOA 的预测危险因素。鼓励开展更大样本量的研究，以探讨该基因型影响 KOA 发生发展的机制。