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rs12901499 多态性与 Smad3 基因及骨关节炎易感性的关系:系统评价和荟萃分析。

The Role Of Rs12901499 Polymorphism In Association With Smad3 Gene And Osteoarthritis Susceptibility: Systematic Review And Meta-Analysis.

机构信息

Department of Radiology, First Hospitalof Qinhuangdao, Hebei, China.

Department of Radiology, Affiliated Zhongshan Hospital of Dalian University, Dalian, Liaoning, China.

出版信息

J Ayub Med Coll Abbottabad. 2021 Apr-Jun;33(2):322-327.

PMID:34137553
Abstract

BACKGROUND

Osteoarthritis is regarded as one of the most frequent disorders of musculoskeletal, which is characterized by the degeneration of articular cartilage and loss of cartilage of the joints. However, the relationship of OA susceptibility with rs12901499 polymorphism in SMAD3 is controversial. Although multiple studies have investigated the correlation of rs12901499A/G polymorphism in SMAD family member 3 (SMAD3) andosteoarthritis (OA) susceptibility, the results from previous studies remain controversial and unsolved. A meta-analysis utilizing fixed and random effects model was performed to clarify the association.

METHODS

Eligible studies were systematically searched from PubMed, Web of Science, Cochrane Library and EMBASE on April 17, 2019 for reporting the correlation of rs12901499 polymorphism and osteoarthritis susceptibility. Pooled Odds ratio of 95% confidence interval was performed to estimate the strength of relationship of rs12901499 polymorphism and osteoarthritis susceptibility. Publication bias was detected by Begg's test and STATA 11.0 software was used to evaluate statistical analysis.

RESULTS

Seven case-control papers involving eight studies from Caucasian and Asian populations were included. A significant increase in osteoarthritis susceptibility was found in recessive, homozygous and allele models. Stratified analysis on ethnicity suggested that the polymorphism with increased risk of OA only in Asians under allele model. Stratified analysis related to population-based studies indicated the increased risk of OA with polymorphism in recessive, homozygous, allele and dominant models.

CONCLUSIONS

This meta-analysis demonstrated that there may be a weak association of rs12901499 polymorphism and OA susceptibility. Due to the limited size of sample and given ethnic groups, more studies need to validate the result in future.

摘要

背景

骨关节炎被认为是最常见的肌肉骨骼疾病之一,其特征是关节软骨退化和软骨丧失。然而,OA 易感性与 SMAD3 中的 rs12901499 多态性的关系存在争议。尽管多项研究已经调查了 SMAD 家族成员 3(SMAD3)中的 rs12901499A/G 多态性与骨关节炎(OA)易感性的相关性,但先前研究的结果仍存在争议且未解决。利用固定和随机效应模型进行荟萃分析以阐明相关性。

方法

系统地从 PubMed、Web of Science、Cochrane Library 和 EMBASE 中搜索了 2019 年 4 月 17 日之前报道 rs12901499 多态性与骨关节炎易感性相关性的研究。使用 95%置信区间的合并优势比来评估 rs12901499 多态性与骨关节炎易感性的关系强度。使用 Begg 检验检测发表偏倚,并用 STATA 11.0 软件进行统计分析。

结果

纳入了来自白人和亚洲人群的七个病例对照研究,共涉及八项研究。在隐性、纯合子和等位基因模型中,骨关节炎易感性显著增加。按种族进行分层分析表明,该多态性仅在亚洲人群的等位基因模型中增加了 OA 的风险。按基于人群的研究进行分层分析表明,在隐性、纯合子、等位基因和显性模型中,该多态性增加了 OA 的风险。

结论

这项荟萃分析表明,rs12901499 多态性与 OA 易感性可能存在微弱关联。由于样本量有限且考虑到不同种族,未来需要更多的研究来验证这一结果。

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引用本文的文献

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Decisive gene strategy on osteoarthritis: a comprehensive whole-literature based approach for conclusive gene targets.决定骨关节炎的基因策略:基于全面文献的明确基因靶点综合方法。
Aging (Albany NY). 2024 Sep 6;16(17):12346-12378. doi: 10.18632/aging.206094.