Department of Orthopaedics, Beijing Friendship Hospital Pinggu Campus, Capital Medical University, Beijing, 101200, China.
Department of Graduate School, Baotou Medical College, Inner Mongolia University of Science and Technology, Baotou, 014040, China.
J Orthop Surg Res. 2023 Oct 10;18(1):763. doi: 10.1186/s13018-023-04245-y.
Osteoarthritis (OA) is caused by a complex set of pathophysiological factors. The genetic factors involved in the occurrence and progress of the disease have been widely discussed by scholars. It was found that growth differentiation factor 5 (GDF5) gene polymorphisms may be linked to OA susceptibility, which has been controversial and needs to be further confirmed by an updated meta-analysis.
We examined the association between GDF5 rs143383 single nucleotide polymorphism (SNP) and OA susceptibility.
All relevant articles that met the criteria are retrieved and included, and the search deadline is June 2022. The allele frequencies and different genotype frequencies of GDF5 rs143383 loci in each study were extracted and statistically analyzed by R4.1.3 software, and the different genetic models were analyzed based on their odds ratio (OR) and 95% confidence interval (CI).
The meta-analysis explained that GDF5 rs143383 SNP was crucial correlated with OA in all patients with OA of knee, hip and hand. The codominant gene model in the whole crowd (OR = 1.17, 95% CI 1.07-1.27, P < 0.01) enlightened that OA was vitally associated with GDF5 gene polymorphism. At the same time, we did a subgroup analysis based on ethnicity. The codominant gene model (OR = 1.31, 95% CI 1.12-1.53, P < 0.01) in Asian population, the codominant homozygote model (OR = 1.28, 95% CI 1.14-1.43), codominant heterozygote gene model (OR = 1.12, 95% CI 1.01-1.23, P = 0.02), and dominant gene model (OR = 1.19, 95% CI 1.09-1.31, P < 0.01) in Caucasian are analyzed by subgroup analysis. It means that there is a momentous relationship between the GDF5rs143383 gene polymorphism and OA, especially among Caucasians. In addition, we also discussed different types of OA separately and discover that the GDF5rs143383 gene polymorphism was relevant for knee osteoarthritis (KOA) and hand osteoarthritis, and it was more significant in the Caucasian population. But due to the high heterogeneity in hip osteoarthritis, it could not be accurately concluded. Furthermore, we also analyzed the osteoarthritis of different genders and found that the GDF5 rs143383 SNP was associated with both men and women and was still significant in the Caucasian population.
We found a close association between osteoarthritis and GDF5rs143383SNP in this study. From the analysis of each group, we got the same conclusion in KOA and hand OA, but which need further verification in hip OA. Considering gender, we found a close relationship between GDF5 rs143383 SNP and OA of the knee, hip and hand, both for men and women. This conclusion is more obvious in Caucasian people.
骨关节炎（OA）是由一系列复杂的病理生理因素引起的。学者们广泛讨论了与疾病发生和进展相关的遗传因素。研究发现生长分化因子 5（GDF5）基因多态性可能与 OA 易感性有关，但这一结果存在争议，需要通过更新的荟萃分析进一步证实。
我们研究了 GDF5 rs143383 单核苷酸多态性（SNP）与 OA 易感性之间的关系。
检索并纳入符合标准的所有相关文章，检索截止日期为 2022 年 6 月。使用 R4.1.3 软件提取每个研究中 GDF5 rs143383 位点的等位基因频率和不同基因型频率，并进行统计分析，根据其比值比（OR）和 95%置信区间（CI）分析不同的遗传模型。
荟萃分析表明，GDF5 rs143383 SNP 与所有膝、髋和手部 OA 患者的 OA 均密切相关。在全人群中，共显性基因模型（OR=1.17，95%CI 1.07-1.27，P<0.01）表明 OA 与 GDF5 基因多态性密切相关。同时，我们根据种族进行了亚组分析。在亚洲人群中，共显性基因模型（OR=1.31，95%CI 1.12-1.53，P<0.01）、共显性纯合子模型（OR=1.28，95%CI 1.14-1.43）、共显性杂合子基因模型（OR=1.12，95%CI 1.01-1.23，P=0.02）和显性基因模型（OR=1.19，95%CI 1.09-1.31，P<0.01）中，均提示 GDF5rs143383 基因多态性与 OA 之间存在重要关系。这意味着 GDF5rs143383 基因多态性与 OA 之间存在密切关系，尤其是在白种人群中。此外，我们还分别讨论了不同类型的 OA，发现 GDF5rs143383 基因多态性与膝骨关节炎（KOA）和手骨关节炎相关，在白种人群中更为显著。但是，由于髋骨关节炎的异质性较高，无法得出准确的结论。此外，我们还分析了不同性别的骨关节炎，发现 GDF5 rs143383 SNP 与男性和女性的骨关节炎均相关，并且在白种人群中仍然显著。
本研究发现 OA 与 GDF5rs143383SNP 密切相关。从各分组分析来看，我们在 KOA 和手 OA 中得到了相同的结论，但在髋 OA 中还需要进一步验证。考虑到性别，我们发现 GDF5 rs143383 SNP 与膝关节、髋关节和手部的 OA 之间存在密切关系，男女均如此。这一结论在白种人群中更为明显。
