原发性膝骨关节炎易感基因多态性位点的系统综述

doi:10.3969/j.issn.1006-9771.2022.07.010

《中国康复理论与实践》 ›› 2022, Vol. 28 ›› Issue (7): 803-808.doi: 10.3969/j.issn.1006-9771.2022.07.010

原发性膝骨关节炎易感基因多态性位点的系统综述

罗盛飞¹,胡志波²,王宁华³,闵红巍^4,⁵,张德俭⁴,刘克敏^4,⁵()

1.天津医科大学第二医院,天津市 300211
2.天津医科大学,天津市 300134
3.北京大学第一医院,北京市 100034
4.中国康复研究中心北京博爱医院,北京市 100068
5.首都医科大学康复医学院,北京市 100068

收稿日期:2021-11-12 修回日期:2022-02-14 出版日期:2022-07-25 发布日期:2022-08-08
通讯作者: 刘克敏 E-mail:keminlqliu@sina.com
作者简介:罗盛飞(1971-),男,汉族,湖北十堰市人,硕士,副主任医师,主要研究方向：膝关节损伤后修复方面的研究。|刘克敏(1964-),男,汉族,山西长治市人,博士,主任医师,主要研究方向：骨关节疾病治疗、骨关节功能重建与康复。
基金资助:
中央级公益性科研院所基础科研业务经费专项资金项目(2019CZ-12)

Susceptibility gene polymorphisms of primary knee osteoarthritis: a systematic review

LUO Shengfei¹,HU Zhibo²,WANG Ninghua³,MIN Hongwei^4,⁵,ZHANG Dejian⁴,LIU Kemin^4,⁵()

1. The Second Hospital of Tianjin Medical University, Tianjin 300211, China
2. Tianjin Medical University, Tianjin 300134, China
3. The First Hospital of Peking University, Beijing 100034, China
4. China Rehabilitation Research Center, Beijing Bo'ai Hospital, Beijing 100068, China
5. Capital Medical University School of Rehabilitation Medicine, Beijing 100068, China

Received:2021-11-12 Revised:2022-02-14 Published:2022-07-25 Online:2022-08-08
Contact: LIU Kemin E-mail:keminlqliu@sina.com
Supported by:
Foundamental Research Funds for General Public Welfare Research Institute(2019CZ-12)

摘要/Abstract

摘要：

目的对原发性膝骨关节炎(PKO)易感基因多态性位点进行系统综述。

方法检索PubMed、Web of Science、中国知网、万方数据库和中国生物医学文献数据库从建库至2020年12月有关PKO遗传易感性与基因多态性的文献,进行系统综述。

结果纳入有关人类PKO易感基因多态性位点的文献共42篇,涉及有关PKO发病的细胞信号通路包括炎症反应、受体信号通路、转录因子信号通路、骨相关信号通路等,包括炎症因子基因、趋化因子基因、Toll样受体基因、转录因子基因、肥胖相关基因、骨相关基因等多个基因多态性位点。

结论炎症因子基因和骨相关等位基因多态性很可能与PKO易感性有关。

关键词: 原发性膝骨关节炎, 遗传易感性, 单核苷酸多态性, 治疗靶点, 系统综述

Abstract:

Objective To conduct a systematic review of the susceptibility gene polymorphism sites of primary knee osteoarthritis (PKO).

Methods The literature on genetic susceptibility and gene polymorphisms of PKO were retrieved from PubMed, Web of Science, CNKI, Wanfang Data, and China Biomedical Literature Database from establishment of the library to December, 2020, and systematically reviewed.

Results A total of 42 papers on the polymorphism sites of human PKO susceptibility genes were included, involving cellular signaling pathways related to PKO pathogenesis, including inflammatory response, receptor signaling pathway, transcription factor signaling pathway, bone-related signaling pathway, etc. Multiple gene polymorphism sites located in inflammatory factor genes, chemokine genes, Toll-like receptor genes, transcription factor genes, obesity-related genes, and bone-related genes.

Conclusion Inflammatory factor genes and bone-associated allele polymorphisms are likely to be related to PKO susceptibility.

Key words: primary knee osteoarthritis, genetic susceptibility, single nucleotide polymorphism, therapeutic targets, systematic review

中图分类号:

R684.3

罗盛飞,胡志波,王宁华,闵红巍,张德俭,刘克敏. 原发性膝骨关节炎易感基因多态性位点的系统综述[J]. 《中国康复理论与实践》, 2022, 28(7): 803-808.

LUO Shengfei,HU Zhibo,WANG Ninghua,MIN Hongwei,ZHANG Dejian,LIU Kemin. Susceptibility gene polymorphisms of primary knee osteoarthritis: a systematic review[J]. 《Chinese Journal of Rehabilitation Theory and Practice》, 2022, 28(7): 803-808.

图/表 4

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参考文献 43

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研究	国家	组别	n	基因型/n
研究	国家	组别	n	GG	AG	AA
Abdel Galil等^[6](2017)	埃及	病例组对照组	210 210	180 115	25 82	5 13
Singh等^[7](2021)	印度	病例组对照组	279 287	204 161	51 85	24 41

研究	国家	组别	n	基因型/n
研究	国家	组别	n	GG	AG	AA
Bai等^[14](2019)	中国	病例组对照组	594 576	189 207	271 265	134 104
张培莉等^[15](2019)	中国	病例组对照组	127 127	83 69	35 51	9 7

研究	国家	组别	n	基因型/n
研究	国家	组别	n	CC	TC	TT
Yang等^[19](2013)	中国	病例组对照组	208 211	28 18	107 101	73 92
Balbaloglu等^[23](2017)	土耳其	病例组对照组	272 296	95 105	120 158	57 33
Zheng等^[22](2017)	中国	病例组对照组	728 1221	252 390	371 590	105 241

原发性膝骨关节炎易感基因多态性位点的系统综述

Susceptibility gene polymorphisms of primary knee osteoarthritis: a systematic review

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