Association between growth differentiation factor 5rs143383 gene polymorphism and knee osteoarthritis: a Meta-Analysis

doi:10.3877/cma.j.issn.2096-0263.2023.01.010

Abstract

Abstract:

Objective

To explore the relationship between growth differentiation factor 5 (GDF5) rs143383 gene polymorphism and knee osteoarthritis (KOA).

Methods

The literatures about the relationship between GDF5 rs143383 gene polymorphism and knee osteoarthritis published from January 1, 2022 were searched, including PubMed, Embase, Web of Science, China knowledge net, Wanfang and VIP database. According to the retrieval strategy, 16 articles (17 items of data) met the inclusion exclusion criteria. After extracting the data from the required research, the odds ratio (OR) and its 95% confidence interval (CI) were determined for evaluation. The publication deviation was evaluated by funnel chart.

Results

We found that there was a significant correlation between GDF5 rs143383 gene polymorphism and knee osteoarthritis. In the overall allele model (T vs C: OR=1.29, 95% CI: 1.14, 1.26, P<0.01), the codominant gene model (TT vs CC: OR=1.45, 95% CI: 1.30, 1.62, P<0.01) and the dominant gene model (TT + TC vs CC: OR=1.29, 95% CI: 1.17, 1.43, P<0.0l), it is suggested that there is a significant correlation between GDF5 gene polymorphism and the occurrence of knee osteoarthritis. In addition, we also subtyped according to race, through subgroup analysis of allele models in Asian and Caucasian populations (Asian population: T vs C: OR=1.22, 95% CI: 1.13, 1.30, P<0.01, Caucasian population: T vs C: OR=1.18, 95% CI: 1.10, 1.26, P<0.01) and codominant gene model (Asian population: TT vs CC: OR=1.58, 95% CI: 1.33, 1.88, P<0.01, Caucasian population: TT vs CC: OR=1.37, 95% CI: 1.19, 1.59, P<0.01) and dominant gene model (Asian population: TT + TC vs CC: OR=1.40, 95% CI: 1.18, 1.65, P<0.01, Caucasian population: TT + TC vs CC: OR=1.24, 95% CI: 1.08, 1.42, P<0.01). Significant association between GDF5 rs143383 gene polymorphism and knee osteoarthritis was observed in Asian and Caucasian populations, but no significant association was found in African population.

Conclusion

There is a significant association between GDF5 rs143383 gene polymorphism and knee osteoarthritis, especially in Asian and Caucasian populations.

Key words: GDF5, rs143383, Gene polymorphism, Osteoarthritis of knee joint, Meta analysis

Yuepeng Wang, Yunfeng Xu. Association between growth differentiation factor 5rs143383 gene polymorphism and knee osteoarthritis: a Meta-Analysis[J]. Chinese Journal of Geriatric Orthopaedics and Rehabilitation(Electronic Edition), 2023, 09(01): 51-58.

/ / Recommend

Add to citation manager EndNote|Ris|BibTeX

URL: https://zhlngkykfdzzz.cma-cmc.com.cn/EN/10.3877/cma.j.issn.2096-0263.2023.01.010

https://zhlngkykfdzzz.cma-cmc.com.cn/EN/Y2023/V09/I01/51

Figures/Tables 6

References 35

1	Vassão PG, Parisi JL, Penha TFC, et al. Association of photobiomodulation therapy (PBMT) and exercises programs in pain and functional capacity of patients with knee osteoarthritis (KOA): a systematic review of randomized trials [J]. Lasers Med Sci, 2021, 36(7): 1341-1353.
2	Khan S, Logan PC, Asokan A, et al. The assessment and management of the arthritic knee: an update [J]. Cureus, 2020, 12(11): e11582.
3	Salaffi F, Di Carlo M, Carotti M, et al. Frailty prevalence according to the Survey of Health, Ageing and Retirement in Europe-Frailty Instrument (SHARE-FI) definition, and its variables associated, in patients with symptomatic knee osteoarthritis: findings from a cross-sectional study [J]. Aging Clin Exp Res, 2021, 33(6): 1519-1527.
4	Sun X, Zhen X, Hu X, et al. Osteoarthritis in the Middle-Aged and Elderly in China: Prevalence and Influencing Factors. Int J Environ Res Public Health [J]. 2019, 16(23): 4701.
5	Tang X, Wang SF, Zhan SY, et al. The prevalence of symptomatic knee osteoarthritis in China: results from the China health and retirement longitudinal study [J]. Arthritis Rheumatol, 2016, 68(3): 648-653.
6	Charlesworth J, Fitzpatrick J, Perera NKP, et al. Osteoarthritis- a systematic review of long-term safety implications for osteoarthritis of the knee [J]. BMC Musculoskelet Disord, 2019, 20(1): 151.
7	Liu CY, Li CD, Wang L, et al. Function scores of different surgeries in the treatment of knee osteoarthritis: A PRISMA-compliant systematic review and network-meta analysis [J]. Medicine (Baltimore), 2018, 97(21): e10828.
8	Sun K, Guo J, Yao X, et al. Growth differentiation factor 5 in cartilage and osteoarthritis: A possible therapeutic candidate [J]. Cell Prolif, 2021, 54(3): e12998.
9	Norris, M J, Simpson, et al. A modified Newcastle,Ottawa scale for assessment of study quality in genetic urological research [J]. Eur Urol, 2021, 79(3): 325-326.
10	Miyamoto Y, Mabuchi A, Shi DQ, et al. A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis [J]. Nat Genet, 2007, 39(4): 529-533.
11	Southam L, Rodriguez-Lopez J, Wilkins JM, et al. An SNP in the 5'-UTR of GDF5 is associated with osteoarthritis susceptibility in Europeans and with in vivo differences in allelic expression in articular cartilage [J]. Hum Mol Genet, 2007, 16(18): 2226-2232.
12	Chapman K, Takahashi A, Meulenbelt I, et al. A meta-analysis of European and Asian cohorts reveals a global role of a functional SNP in the 5' UTR of GDF5 with osteoarthritis susceptibility [J]. Hum Mol Genet, 2008, 17(10): 1497-1504.
13	Tsezou A, Satra M, Oikonomou P, et al. The growth differentiation factor 5 (GDF5) core promoter polymorphism is not associated with knee osteoarthritis in the Greek population [J]. J Orthop Res, 2008, 26(1): 136-140.
14	姚晨,戴进,秦江辉,等. GDF5基因5′端一功能性SNP与骨性关节炎易感性相关[J].江苏医药, 2008, 34(12): 1198-1199.
15	Vaes RBA, Rivadeneira F, Kerkhof JM, et al. Genetic variation in the GDF5 region is associated with osteoarthritis, height, hip axis length and fracture risk: the Rotterdam study [J]. Ann Rheum Dis, 2009, 68(11): 1754-1760.
16	Valdes AM, Spector TD, Doherty S, et al. Association of the DVWA and GDF5 polymorphisms with osteoarthritis in UK populations [J]. Ann Rheum Dis, 2009, 68(12): 1916-1920.
17	Cao Z, Lee HS, Song JH, et al. Growth differentiation factor 5Core promoter polymorphism is not associated with susceptibility to osteoarthritis of the knee in the Korean population [J]. Korean J Pathol, 2010, 44(4): 9.
18	Takahashi H, Nakajima M, Ozaki K, et al. Prediction model for knee osteoarthritis based on genetic and clinical information [J]. Arthritis Res Ther, 2010, 12(5): R187.
19	Tawonsawatruk Tulyapruek, Changthong Theeraroj, Pingsuthiwong Sarinee, et al. A genetic association study between growth differentiation factor 5 (GDF 5) polymorphism and knee osteoarthritis in Thai population [J]. J Orthop Surg Res, 2011, 6: 47.
20	Shin MH, Lee SJ, Kee SJ, et al. Genetic association analysis of GDF5 and Adam12 for knee osteoarthritis [J]. Joint Bone Spine, 2012, 79(5): 488-491.
21	Abd Elazeem MI, Abdelaleem EA, Mohamed RA. Genetic influence of growth and differentiation factor 5 gene polymorphism (+104T/C) on the development of knee osteoarthritis and its association with disease severity [J]. Eur J Rheumatol, 2017, 4(2): 98-103.
22	Mishra A, Srivastava RN, Awasthi S, et al. Expression of genes and their polymorphism influences the risk of knee osteoarthritis [J]. J Nucleic Acids, 2017, 2017: 3138254.
23	Ozcan SS, Korkmaz M, Balbaloglu O, et al. Polymorphisms in the growth differentiation factor 5 (GDF 5) gene in knee osteoarthritis [J]. J Coll Physicians Surg Pak, 2017, 27(10): 602-605.
24	Mohasseb DMF, Saba EKA, Saad NLM, et al. Genetic association between growth differentiation factor 5 single nucleotide polymorphism and primary knee osteoarthritis in a group of Egyptian patients: a pilot study [J]. Mediterr J Rheumatol, 2019, 30(2): 114-122.
25	Zhang SJ, Wang J, Ji HL, et al. Interaction between GDF5 gene polymorphisms and environment factors increased the risk of knee osteoarthritis: a case-control study [J]. Biosci Rep, 2019, 39(2): BSR20182423.
26	Jia B, Jiang YP, Xu YX, et al. Correlation between growth differentiation factor 5 (rs143383) gene polymorphism and knee osteoarthritis: an updated systematic review and meta-analysis [J]. J Orthop Surg Res, 2021, 16(1): 146.
27	杨明义,苏亚妮,郑海石,等.骨性关节炎软骨下骨改变中的潜在生物标志物[J].中华实验外科杂志, 2022, 39(4): 749-752.
28	顾晓东,车先达,李鹏翠,等.骨关节炎基因治疗的研究进展[J].中华骨与关节外科杂志, 2019, 12(05): 396-400.
29	Beier F. The impact of omics research on our understanding of osteoarthritis and future treatments [J]. Curr Opin Rheumatol, 2023, 35(1): 55-60.
30	Pothiawala A, Sahbazoglu BE, Ang BK, et al. GDF5+ chondroprogenitors derived from human pluripotent stem cells preferentially form permanent chondrocytes [J]. Development, 2022, 149(11): 196220.
31	Hata A, Seoane J, Lagna G, et al. OAZ uses distinct DNA- and protein-binding Zinc fingers in separate BMP-Smad and Olf signaling pathways [J]. Cell, 2000, 100(2): 229-240.
32	Aoki H, Fujii M, Imamura T, et al. Synergistic effects of different bone morphogenetic protein type I receptors on alkaline phosphatase induction [J]. J Cell Sci, 2001, 114(Pt 8): 1483-1489.
33	He Y, Yao W, Zhang M, et al. Changes in osteogenic gene expression in hypertrophic chondrocytes induced by SIN-1 [J]. Exp Ther Med, 2018, 16(2): 609-618.
34	Schwaerzer GK, Hiepen C, Schrewe H, et al. New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance [J]. J Bone Miner Res, 2012, 27(2): 429-442.
35	Zhang WT, Wu XH, Pei Z, et al. GDF5 promotes white adipose tissue thermogenesis via p38 MAPK signaling pathway [J]. DNA Cell Biol, 2019, 38(11): 1303-1312.

纳入研究	国家	种族	KOA/对照	男性/女性	KOA			Control
纳入研究	国家	种族	KOA/对照	男性/女性	TT	TC	CC	TT	TC	CC
Miyamoto等^[10]2007	日本	亚洲人群	718/861	NA/NA	444	243	31	473	330	58
Southam等^[11]2007	西班牙和英国	高加索人	623/2018	1204/1437	243	304	76	763	935	320
Chapman等^[2]2008	荷兰	高加索人	142/724	NA/NA	54	72	16	289	331	104
Tsezou等^[13]2008	德国	高加索人	251/267	144/374	95	126	30	99	125	44
姚晨等^[14]2008	中国	亚洲人群	313/485	275/523	197	97	19	244	193	48
Vaes等^[15]2009	荷兰	高加索人	667/2097	1096/1668	276	298	93	752	1014	331
Valdes等^[16]2009	英国(Chingford）	高加索人	259/509	NA/NA	126	98	35	181	244	84
Valdes等^[16]2009	英国（Nottingham）	高加索人	735/646	NA/NA	337	313	85	238	329	79
Cao等^[17]2010	韩国	亚洲人	276/298	213/361	150	115	11	159	113	26
Takahash等^[18]2010	日本	亚洲人	933/1225	477/1681	566	313	54	684	461	80
Tawonsawatruk等^[19]2011	泰国	亚洲人	90/103	21/172	38	41	11	33	47	23
Shin等^[20]2012	韩国	亚洲人	725/1737	1035/1409	382	305	38	942	689	106
Elazeem等^[21]2017	埃及	非洲人	50/50	18/82	20	16	14	12	25	13
Mishra等^[22]2017	印度	亚洲人	500/500	429/571	199	226	75	131	272	97
Ozcan等^[23]2017	土耳其	高加索人	94/279	NA/NA	37	43	14	74	153	52
Mohasseb等^[24]2019	埃及	非洲人	47/40	18/69	14	23	10	16	13	11
Zhang等^[25]2019	中国	亚洲人	288/397	314/371	124	105	59	206	159	32

纳入研究	国家	种族	KOA/对照	男性/女性	KOA			Control
纳入研究	国家	种族	KOA/对照	男性/女性	TT	TC	CC	TT	TC	CC
Miyamoto等^[10]2007	日本	亚洲人群	718/861	NA/NA	444	243	31	473	330	58
Southam等^[11]2007	西班牙和英国	高加索人	623/2018	1204/1437	243	304	76	763	935	320
Chapman等^[2]2008	荷兰	高加索人	142/724	NA/NA	54	72	16	289	331	104
Tsezou等^[13]2008	德国	高加索人	251/267	144/374	95	126	30	99	125	44
姚晨等^[14]2008	中国	亚洲人群	313/485	275/523	197	97	19	244	193	48
Vaes等^[15]2009	荷兰	高加索人	667/2097	1096/1668	276	298	93	752	1014	331
Valdes等^[16]2009	英国(Chingford）	高加索人	259/509	NA/NA	126	98	35	181	244	84
Valdes等^[16]2009	英国（Nottingham）	高加索人	735/646	NA/NA	337	313	85	238	329	79
Cao等^[17]2010	韩国	亚洲人	276/298	213/361	150	115	11	159	113	26
Takahash等^[18]2010	日本	亚洲人	933/1225	477/1681	566	313	54	684	461	80
Tawonsawatruk等^[19]2011	泰国	亚洲人	90/103	21/172	38	41	11	33	47	23
Shin等^[20]2012	韩国	亚洲人	725/1737	1035/1409	382	305	38	942	689	106
Elazeem等^[21]2017	埃及	非洲人	50/50	18/82	20	16	14	12	25	13
Mishra等^[22]2017	印度	亚洲人	500/500	429/571	199	226	75	131	272	97
Ozcan等^[23]2017	土耳其	高加索人	94/279	NA/NA	37	43	14	74	153	52
Mohasseb等^[24]2019	埃及	非洲人	47/40	18/69	14	23	10	16	13	11
Zhang等^[25]2019	中国	亚洲人	288/397	314/371	124	105	59	206	159	32

纳入研究	选择（最多评分: 4星）	组间可比性（最多评分：2星）	暴露(最多评分：3星）	总共
Miyamoto等^[10]2007	☆☆☆	☆	☆☆	☆☆☆☆☆☆
Southam等^[11]2007	☆☆☆☆	☆	☆☆	☆☆☆☆☆☆☆
Chapman等^[2]2008	☆☆☆☆	☆	☆☆	☆☆☆☆☆☆☆
Tsezou等^[13]2008	☆☆☆☆	☆	☆☆	☆☆☆☆☆☆☆
姚晨等^[14]2008	☆☆☆☆	☆☆	☆☆	☆☆☆☆☆☆☆☆
Vaes等^[15]2009	☆☆☆☆	☆☆	☆☆	☆☆☆☆☆☆☆☆
Valdes等^[16]2009	☆☆☆☆	☆	☆☆	☆☆☆☆☆☆☆
Valdes等^[16]2009	☆☆☆☆	☆	☆☆	☆☆☆☆☆☆☆
Takahash等^[18]2010	☆☆☆☆	☆	☆☆	☆☆☆☆☆☆☆
Tawonsawatruk等^[19]2011	☆☆☆☆	☆	☆☆	☆☆☆☆☆☆☆
Shin等^[20]2012	☆☆☆☆	☆☆	☆☆	☆☆☆☆☆☆☆☆
Elazeem等^[21]2017	☆☆☆☆	☆☆	☆☆	☆☆☆☆☆☆☆☆
Mishra等^[22]2017	☆☆☆	☆	☆☆	☆☆☆☆☆☆
Ozcan等^[23]2017	☆☆☆☆	☆	☆☆	☆☆☆☆☆☆☆
Mohasseb等^[24]2019	☆☆☆☆	☆☆	☆☆	☆☆☆☆☆☆☆☆
Zhang等^[25]2019	☆☆☆☆	☆	☆	☆☆☆☆☆☆

纳入研究	选择（最多评分: 4星）	组间可比性（最多评分：2星）	暴露(最多评分：3星）	总共
Miyamoto等^[10]2007	☆☆☆	☆	☆☆	☆☆☆☆☆☆
Southam等^[11]2007	☆☆☆☆	☆	☆☆	☆☆☆☆☆☆☆
Chapman等^[2]2008	☆☆☆☆	☆	☆☆	☆☆☆☆☆☆☆
Tsezou等^[13]2008	☆☆☆☆	☆	☆☆	☆☆☆☆☆☆☆
姚晨等^[14]2008	☆☆☆☆	☆☆	☆☆	☆☆☆☆☆☆☆☆
Vaes等^[15]2009	☆☆☆☆	☆☆	☆☆	☆☆☆☆☆☆☆☆
Valdes等^[16]2009	☆☆☆☆	☆	☆☆	☆☆☆☆☆☆☆
Valdes等^[16]2009	☆☆☆☆	☆	☆☆	☆☆☆☆☆☆☆
Takahash等^[18]2010	☆☆☆☆	☆	☆☆	☆☆☆☆☆☆☆
Tawonsawatruk等^[19]2011	☆☆☆☆	☆	☆☆	☆☆☆☆☆☆☆
Shin等^[20]2012	☆☆☆☆	☆☆	☆☆	☆☆☆☆☆☆☆☆
Elazeem等^[21]2017	☆☆☆☆	☆☆	☆☆	☆☆☆☆☆☆☆☆
Mishra等^[22]2017	☆☆☆	☆	☆☆	☆☆☆☆☆☆
Ozcan等^[23]2017	☆☆☆☆	☆	☆☆	☆☆☆☆☆☆☆
Mohasseb等^[24]2019	☆☆☆☆	☆☆	☆☆	☆☆☆☆☆☆☆☆
Zhang等^[25]2019	☆☆☆☆	☆	☆	☆☆☆☆☆☆

[1]	Pengcheng Ma, Wei Liu, Siping Zhang. Effect of joint capsular closure in arthroscopic treatment for femoroacetabular impingement syndrome [J]. Chinese Journal of Joint Surgery(Electronic Edition), 2023, 17(05): 653-662.
[2]	Liang Mo, Xianmei Xiong, Chao Ma, Yuhao Liu, Zhenqiu Chen, Wei He, Chi Zhou. Analysis on relationship between postoperative factors and necrosis of femoral head following internal fixation of femoral neck fracture [J]. Chinese Journal of Joint Surgery(Electronic Edition), 2022, 16(06): 735-744.
[3]	Dianqi Liu, Zhichen Li, Lin Tang, Enhao Pan, Weijie Lu. Meta analysis of anterior cruciate ligament influence on curative effect of unicompartmental knee arthroplasty [J]. Chinese Journal of Joint Surgery(Electronic Edition), 2022, 16(05): 576-585.
[4]	Yan Shi, Yue Zhang, Suqiong Chen, Ke Wang, Xingqiong Huang. Human leukocyte antigen-B and -DRB1 loci polymorphism in children with Henoch-Schönlein purpura in Liangshan area [J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2023, 19(02): 242-248.
[5]	Shuo Yang, Hongming Ma, Xiaoting Guan, Zhengxian Chen. Meta-analysis of EGLN3 expression in lung adenocarcinoma [J]. Chinese Journal of Lung Diseases(Electronic Edition), 2023, 16(01): 31-38.
[6]	Hongda Liu, Xiangzhong Shao, Lin Li, Xiaowei Xu. Correlation between CYP2C19 gene polymorphism and clopidogrel resistance in patients with atherosclerotic thrombotic cerebral infarction in Hai'an area [J]. Chinese Journal of Neurotraumatic Surgery(Electronic Edition), 2023, 09(04): 234-240.
[7]	Junmiao Ge, Jidong Sun, Xiangyu Gao, Dan Liao, Haofuzi Zhang, Erwan Yang, Zhicheng Tian, Xiaofan Jiang, Peng Luo. Serum S-100B for mild traumatic brain injury: a systematic review and meta-analysis of diagnostic test accuracy [J]. Chinese Journal of Neurotraumatic Surgery(Electronic Edition), 2022, 08(04): 209-217.
[8]	Zuzhuo Zhang, Yali Wang, Dongdong Han, Na Liu, Wenjuan Wu, Haitian Liu. To compare the diagnostic efficacy of CT and MRI in the evaluation of occult hip fracture: A Meta-Analysis [J]. Chinese Journal of Geriatric Orthopaedics and Rehabilitation(Electronic Edition), 2022, 08(04): 250-256.
[9]	Yong Zhang, Li Zhou, Bin He. Effect of BDNF Val66Met gene polymorphism on the efficacy of delayed encephalopathy after acute carbon monoxide poisoning in patients [J]. Chinese Journal of Brain Diseases and Rehabilitation(Electronic Edition), 2022, 12(06): 355-359.
[10]	Langhuan Zhou, Weiling Gong, Fuchun Sun, Song Song. Meta analysis of somatostatin combined with ulinastatin in the treatment of gastrointestinal bleeding [J]. Chinese Journal of Digestion and Medical Imageology(Electronic Edition), 2023, 13(01): 26-32.
[11]	Aijuan Fan, Haiping Mou. Systematic review and Meta-analysis of endoscopic ultrasound drainage for peripancreatic fluid collection after pancreatic surgery [J]. Chinese Journal of Digestion and Medical Imageology(Electronic Edition), 2022, 12(06): 361-366.
[12]	Fei Sun, Jun Luo, Jinbo Xiang, Xiaoyan Hu. Current status of research of pathogen infection and susceptibility-related gene polymorphisms in Kawasaki disease [J]. Chinese Journal of Clinicians(Electronic Edition), 2023, 17(01): 89-92.
[13]	Lyu’er Shi, Qi Ren, Hangxia Shen. Effect of dexmedetomidine on elderly patients undergoing cardiac surgery: A meta analysis [J]. Chinese Journal of Geriatrics Research(Electronic Edition), 2023, 10(01): 34-40.
[14]	Yuepeng Wang, Su Yang, Shilei Qin, Pengfei Han, Yunfeng Xu. Meta analysis of the effect of gap balance and measurement osteotomy in total knee arthroplasty [J]. Chinese Journal of Geriatrics Research(Electronic Edition), 2022, 09(04): 30-39.
[15]	Zanlin Li, Jianhui Ma, Zhi Wang. Systematic evaluation and analysis of the efficacy of laparoscopic sleeve gastrectomy for gastroesophageal reflux disease [J]. Chinese Journal of Gastroesophageal Reflux Disease(Electronic Edition), 2023, 10(01): 22-30.

Please choose a citation manager

Content to export