Skip to main content
Top
Published in: BMC Medical Genetics 1/2018

Open Access 01-12-2018 | Research article

Association between GDF5 rs143383 genetic polymorphism and musculoskeletal degenerative diseases susceptibility: a meta-analysis

Authors: Xin Huang, Weiyue Zhang, Zengwu Shao

Published in: BMC Medical Genetics | Issue 1/2018

Login to get access

Abstract

Background

Several studies have assessed the association between GDF5 rs143383 polymorphism and the susceptibility of musculoskeletal degenerative diseases, such as intervertebral disc degeneration (IDD) and osteoarthritis (OA), but the results are inconsistent. The aim of our study was to evaluate the association between them comprehensively.

Methods

A systematical search was conducted on PubMed, Scopus, Web of Science (WOS), Embase, and the Cochrane Library databases updated to April 20, 2018. Eligible studies about polymorphisms in GDF5 gene and risk of IDD or OA were included. Pooled odds ratios (ORs) and 95% confidence intervals (95% CIs) were utilized.

Results

Fifteen studies with a total of 5915 cases and 12,252 controls were finally included in our study. Meta-analysis of GDF5 rs143383 polymorphism was statistically associated with increased risk of musculoskeletal degenerative diseases under each genetic model (allele model: OR = 1.32, 95% CI 1.19–1.48, P = 0.000; homozygote model: OR = 1.80, 95%CI 1.49–2.16, P = 0.000; heterozygote model: OR = 1.37, 95%CI 1.21–1.55, P = 0.000; dominant model: OR = 1.56, 95%CI 1.39–1.75, P = 0.000; recessive model: OR = 1.39, 95%CI 1.20–1.60, P = 0.000). Stratified analyses based on disease type showed a significant association between the GDF5 rs143383 polymorphism and increased risk of IDD and OA under all genetic models studied. When stratified with ethnicity, pooled outcomes revealed that this polymorphism was significantly related with increased risk of musculoskeletal degenerative diseases in both Asian and Caucasian populations under all genetic models studied.

Conclusions

The present study suggested that GDF5 rs143383 polymorphism was significantly associated with susceptibility to musculoskeletal degenerative diseases.
Appendix
Available only for authorised users
Literature
1.
go back to reference Benoist M. The natural history of lumbar disc herniation and radiculopathy. Joint Bone Spine. 2002;69:155–60.CrossRefPubMed Benoist M. The natural history of lumbar disc herniation and radiculopathy. Joint Bone Spine. 2002;69:155–60.CrossRefPubMed
2.
go back to reference Bailey AJ, Knott L. Molecular changes in bone collagen in osteoporosis and osteoarthritis in the elderly. Exp Gerontol. 1999;34:337–51.CrossRefPubMed Bailey AJ, Knott L. Molecular changes in bone collagen in osteoporosis and osteoarthritis in the elderly. Exp Gerontol. 1999;34:337–51.CrossRefPubMed
3.
go back to reference Houard X, Goldring MB, Berenbaum F. Homeostatic mechanisms in articular cartilage and role of inflammation in osteoarthritis. Curr Rheumatol Rep. 2013;15. Houard X, Goldring MB, Berenbaum F. Homeostatic mechanisms in articular cartilage and role of inflammation in osteoarthritis. Curr Rheumatol Rep. 2013;15.
4.
go back to reference Kalb S, Martirosyan NL, Kalani MYS, Broc GG, Theodore N. Genetics of the degenerated intervertebral disc. World Neurosurg. 2012;77:491–501.CrossRefPubMed Kalb S, Martirosyan NL, Kalani MYS, Broc GG, Theodore N. Genetics of the degenerated intervertebral disc. World Neurosurg. 2012;77:491–501.CrossRefPubMed
5.
go back to reference Mishara A, Sanghi D, Chandra Sharma A, Raj S, Shanker Maurya S, Avasthi S. Association of Polymorphism in growth and differentiation factor 5 gene with osteoarthritis knee. Am J Biochem Biotechnol. 2013;9:1–7.CrossRef Mishara A, Sanghi D, Chandra Sharma A, Raj S, Shanker Maurya S, Avasthi S. Association of Polymorphism in growth and differentiation factor 5 gene with osteoarthritis knee. Am J Biochem Biotechnol. 2013;9:1–7.CrossRef
6.
go back to reference Zhang R, Yao JF, Xu P, Ji BH, Luck JV, Chin B, et al. A comprehensive meta-analysis of association between genetic variants of GDF5 and osteoarthritis of the knee, hip and hand. Inflamm Res. 2015;64:405–14.CrossRefPubMed Zhang R, Yao JF, Xu P, Ji BH, Luck JV, Chin B, et al. A comprehensive meta-analysis of association between genetic variants of GDF5 and osteoarthritis of the knee, hip and hand. Inflamm Res. 2015;64:405–14.CrossRefPubMed
7.
go back to reference Feng CC, Liu H, Yang Y, Huang B, Zhou Y. Growth and differentiation Factor-5 contributes to the structural and functional maintenance of the intervertebral disc. Cell Physiol Biochem. 2015;35:1–16.CrossRefPubMed Feng CC, Liu H, Yang Y, Huang B, Zhou Y. Growth and differentiation Factor-5 contributes to the structural and functional maintenance of the intervertebral disc. Cell Physiol Biochem. 2015;35:1–16.CrossRefPubMed
8.
go back to reference Francis-West PH, Abdelfattah A, Chen P, Allen C, Parish J, Ladher R, et al. Mechanisms of GDF-5 action during skeletal development. Development. 1999;126:1305–15.PubMed Francis-West PH, Abdelfattah A, Chen P, Allen C, Parish J, Ladher R, et al. Mechanisms of GDF-5 action during skeletal development. Development. 1999;126:1305–15.PubMed
9.
go back to reference Nishitoh H, Ichijo H, Kimura M, Matsumoto T, Makishima F, Yamaguchi A, et al. Identification of type I and type II serine/threonine kinase receptors for growth/differentiation factor-5. J Biol Chem. 1996;271:21345–52.CrossRefPubMed Nishitoh H, Ichijo H, Kimura M, Matsumoto T, Makishima F, Yamaguchi A, et al. Identification of type I and type II serine/threonine kinase receptors for growth/differentiation factor-5. J Biol Chem. 1996;271:21345–52.CrossRefPubMed
10.
go back to reference Mikic B, Battaglia TC, Taylor EA, Clark RT. The effect of growth/differentiation factor-5 deficiency on femoral composition and mechanical behavior in mice. Bone. 2002;30:733–7.CrossRefPubMed Mikic B, Battaglia TC, Taylor EA, Clark RT. The effect of growth/differentiation factor-5 deficiency on femoral composition and mechanical behavior in mice. Bone. 2002;30:733–7.CrossRefPubMed
11.
go back to reference Li XD, Leo BM, Beck G, Balian G, Anderson DG. Collagen and proteoglycan abnormalities in the GDF-5-deficient mice and molecular changes when treating disk cells with recombinant growth factor. Spine. 2004;29:2229–34.CrossRefPubMed Li XD, Leo BM, Beck G, Balian G, Anderson DG. Collagen and proteoglycan abnormalities in the GDF-5-deficient mice and molecular changes when treating disk cells with recombinant growth factor. Spine. 2004;29:2229–34.CrossRefPubMed
12.
go back to reference Chujo T, An HS, Akeda K, Miyamoto K, Muehleman C, Attawia M, et al. Effects of growth differentiation factor-5 on the intervertebral disc - in vitro bovine study and in vivo rabbit disc degeneration model study. Spine. 2006;31:2909–17.CrossRefPubMed Chujo T, An HS, Akeda K, Miyamoto K, Muehleman C, Attawia M, et al. Effects of growth differentiation factor-5 on the intervertebral disc - in vitro bovine study and in vivo rabbit disc degeneration model study. Spine. 2006;31:2909–17.CrossRefPubMed
13.
go back to reference Le Maitre CL, Freemont AJ, Hoyland JA. Expression of cartilage-derived morphogenetic protein in human intervertebral discs and its effect on matrix synthesis in degenerate human nucleus pulposus cells. Arthritis Res Ther. 2009;11. Le Maitre CL, Freemont AJ, Hoyland JA. Expression of cartilage-derived morphogenetic protein in human intervertebral discs and its effect on matrix synthesis in degenerate human nucleus pulposus cells. Arthritis Res Ther. 2009;11.
14.
go back to reference Hao SW, Jin QH. Association between the +104T/C polymorphism in the 5 ' UTR of GDF5 and susceptibility to knee osteoarthritis: a meta-analysis. Mol Med Rep. 2013;7:485–8.CrossRefPubMed Hao SW, Jin QH. Association between the +104T/C polymorphism in the 5 ' UTR of GDF5 and susceptibility to knee osteoarthritis: a meta-analysis. Mol Med Rep. 2013;7:485–8.CrossRefPubMed
15.
go back to reference Pan F, Tian J, Winzenberg T, Ding CH, Jones G. Association between GDF5 rs143383 polymorphism and knee osteoarthritis: an updated meta-analysis based on 23,995 subjects. BMC Musculoskelet Disord. 2014;15. Pan F, Tian J, Winzenberg T, Ding CH, Jones G. Association between GDF5 rs143383 polymorphism and knee osteoarthritis: an updated meta-analysis based on 23,995 subjects. BMC Musculoskelet Disord. 2014;15.
16.
go back to reference Jiang D, Hao ZT, Fan DS, Guo W, Xu PC, Yin C, et al. Association between GDF5+104T/C polymorphism and knee osteoarthritis in Caucasian and Asian populations: a meta-analysis based on case-control studies. J Orthop Surg Res. 2016;11. Jiang D, Hao ZT, Fan DS, Guo W, Xu PC, Yin C, et al. Association between GDF5+104T/C polymorphism and knee osteoarthritis in Caucasian and Asian populations: a meta-analysis based on case-control studies. J Orthop Surg Res. 2016;11.
17.
go back to reference Mu J, Ge W, Zuo X, Chen Y, Huang C. A SNP in the 5'UTR of GDF5 is associated with susceptibility to symptomatic lumbar disc herniation in the Chinese Han population. Eur Spine J. 2014;23:498–503.CrossRefPubMed Mu J, Ge W, Zuo X, Chen Y, Huang C. A SNP in the 5'UTR of GDF5 is associated with susceptibility to symptomatic lumbar disc herniation in the Chinese Han population. Eur Spine J. 2014;23:498–503.CrossRefPubMed
18.
go back to reference Mu J, Ge W, Zuo X, Chen Y, Huang C. Analysis of association between IL-1beta, CASP-9, and GDF5 variants and low-back pain in Chinese male soldier: clinical article. Journal of neurosurgery Spine. 2013;19:243–7.CrossRefPubMed Mu J, Ge W, Zuo X, Chen Y, Huang C. Analysis of association between IL-1beta, CASP-9, and GDF5 variants and low-back pain in Chinese male soldier: clinical article. Journal of neurosurgery Spine. 2013;19:243–7.CrossRefPubMed
19.
go back to reference Williams FMK, Popham M, Hart DJ, de Schepper E, Bierma-Zeinstra S, Hofman A, et al. GDF5 single-nucleotide polymorphism rs143383 is associated with lumbar disc degeneration in northern European women. Arthritis Rheum. 2011;63:708–12.CrossRefPubMedPubMedCentral Williams FMK, Popham M, Hart DJ, de Schepper E, Bierma-Zeinstra S, Hofman A, et al. GDF5 single-nucleotide polymorphism rs143383 is associated with lumbar disc degeneration in northern European women. Arthritis Rheum. 2011;63:708–12.CrossRefPubMedPubMedCentral
20.
go back to reference Tuluce Y, Yildirim IH, Ozkol H, Edi ZL, Delen V. Is GDF5 gene promoter polymorphism +104T/C associated with osteoarthritis in the eastern of Turkey population? Cell Mol Biol. 2017;63:64–6.CrossRefPubMed Tuluce Y, Yildirim IH, Ozkol H, Edi ZL, Delen V. Is GDF5 gene promoter polymorphism +104T/C associated with osteoarthritis in the eastern of Turkey population? Cell Mol Biol. 2017;63:64–6.CrossRefPubMed
21.
go back to reference 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. Eur J Rheumatol. 2017;4:98–103.CrossRefPubMedPubMedCentral 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. Eur J Rheumatol. 2017;4:98–103.CrossRefPubMedPubMedCentral
22.
go back to reference Sabah-Ozcan S, Korkmaz M, Balbaloglu O, Percin F, Yilmaz N, Erdogan Y, et al. Polymorphisms in the growth differentiation factor 5 (GDF 5) gene in knee osteoarthritis. Jcpsp-J Coll Physici. 2017;27:602–5. Sabah-Ozcan S, Korkmaz M, Balbaloglu O, Percin F, Yilmaz N, Erdogan Y, et al. Polymorphisms in the growth differentiation factor 5 (GDF 5) gene in knee osteoarthritis. Jcpsp-J Coll Physici. 2017;27:602–5.
23.
go back to reference Xiao JL, Meng JH, Gan YH, Zhou CY, Ma XC. Association of GDF5, SMAD3 and RUNX2 polymorphisms with temporomandibular joint osteoarthritis in female Han Chinese. J Oral Rehabil. 2015;42:529–36.CrossRefPubMed Xiao JL, Meng JH, Gan YH, Zhou CY, Ma XC. Association of GDF5, SMAD3 and RUNX2 polymorphisms with temporomandibular joint osteoarthritis in female Han Chinese. J Oral Rehabil. 2015;42:529–36.CrossRefPubMed
24.
go back to reference Hernandez JL, Weir BS. A disequilibrium coefficient approach to hardy-Weinberg testing. Biometrics. 1989;45:53–70.CrossRefPubMed Hernandez JL, Weir BS. A disequilibrium coefficient approach to hardy-Weinberg testing. Biometrics. 1989;45:53–70.CrossRefPubMed
25.
go back to reference Egger M, Smith GD, Schneider M, Minder C. Bias in meta-analysis detected by a simple, graphical test. Brit Med J. 1997;315:629–34.CrossRefPubMed Egger M, Smith GD, Schneider M, Minder C. Bias in meta-analysis detected by a simple, graphical test. Brit Med J. 1997;315:629–34.CrossRefPubMed
26.
go back to reference Battie MC, Videman T. Lumbar disc degeneration: epidemiology and genetics. J Bone Joint Surg Am. 2006;88(Suppl 2):3–9.PubMed Battie MC, Videman T. Lumbar disc degeneration: epidemiology and genetics. J Bone Joint Surg Am. 2006;88(Suppl 2):3–9.PubMed
27.
go back to reference Peffers MJ, Balaskas P, Smagul A. Osteoarthritis year in review 2017: genetics and epigenetics. Osteoarthr Cartil. 2018;26:304–11.CrossRefPubMed Peffers MJ, Balaskas P, Smagul A. Osteoarthritis year in review 2017: genetics and epigenetics. Osteoarthr Cartil. 2018;26:304–11.CrossRefPubMed
28.
go back to reference Miyamoto Y, Mabuchi A, Shi DQ, Kubo T, Takatori Y, Saito S, et al. A functional polymorphism in the 5 ' UTR of GDF5 is associated with susceptibility to osteoarthritis. Nat Genet. 2007;39:529–33.CrossRefPubMed Miyamoto Y, Mabuchi A, Shi DQ, Kubo T, Takatori Y, Saito S, et al. A functional polymorphism in the 5 ' UTR of GDF5 is associated with susceptibility to osteoarthritis. Nat Genet. 2007;39:529–33.CrossRefPubMed
29.
go back to reference Tawonsawatruk T, Changthong T, Pingsuthiwong S, Trachoo O, Sura T, Wajanavisit W. A genetic association study between growth differentiation factor 5 (GDF 5) polymorphism and knee osteoarthritis in Thai population. J Orthop Surg Res. 2011;6.CrossRefPubMedPubMedCentral Tawonsawatruk T, Changthong T, Pingsuthiwong S, Trachoo O, Sura T, Wajanavisit W. A genetic association study between growth differentiation factor 5 (GDF 5) polymorphism and knee osteoarthritis in Thai population. J Orthop Surg Res. 2011;6.CrossRefPubMedPubMedCentral
30.
go back to reference Cao Z, Lee HS, Song JH, Yoon JW, Park YK, Nam SW, et al. Growth differentiation factor 5 [GDF5] Core promoter polymorphism is not associated with susceptibility to osteoarthritis of the knee in the Korean population. Korean J Pathol. 2010;44:404–9.CrossRef Cao Z, Lee HS, Song JH, Yoon JW, Park YK, Nam SW, et al. Growth differentiation factor 5 [GDF5] Core promoter polymorphism is not associated with susceptibility to osteoarthritis of the knee in the Korean population. Korean J Pathol. 2010;44:404–9.CrossRef
31.
go back to reference Valdes AM, Spector TD, Doherty S, Wheeler M, Hart DJ, Doherty M. Association of the DVWA and GDF5 polymorphisms with osteoarthritis in UK populations. Ann Rheum Dis. 2009;68:1916–20.CrossRefPubMed Valdes AM, Spector TD, Doherty S, Wheeler M, Hart DJ, Doherty M. Association of the DVWA and GDF5 polymorphisms with osteoarthritis in UK populations. Ann Rheum Dis. 2009;68:1916–20.CrossRefPubMed
32.
go back to reference Tsezou A, Satra M, Oikonomou P, Bargiotas K, Malizos KN. The growth differentiation factor 5 (GDF5) core promoter polymorphism is not associated with knee osteoarthritis in the Greek population. J Orthop Res. 2008;26:136–40.CrossRefPubMed Tsezou A, Satra M, Oikonomou P, Bargiotas K, Malizos KN. The growth differentiation factor 5 (GDF5) core promoter polymorphism is not associated with knee osteoarthritis in the Greek population. J Orthop Res. 2008;26:136–40.CrossRefPubMed
33.
go back to reference Yoshinari M. A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis. Nat Genet. 2007;4. Yoshinari M. A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis. Nat Genet. 2007;4.
34.
go back to reference Southam L, Rodriguez-Lopez J, Wilkins JM, Pombo-Suarez M, Snelling S, Gomez-Reino JJ, 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. Hum Mol Genet. 2007;16:2226–32.CrossRefPubMed Southam L, Rodriguez-Lopez J, Wilkins JM, Pombo-Suarez M, Snelling S, Gomez-Reino JJ, 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. Hum Mol Genet. 2007;16:2226–32.CrossRefPubMed
35.
go back to reference Shin MH, Lee SJ, Kee SJ, Song SK, Kweon SS, Park DJ, et al. Genetic association analysis of GDF5 and ADAM12 for knee osteoarthritis. Joint Bone Spine. 2012;79:488–91.CrossRefPubMed Shin MH, Lee SJ, Kee SJ, Song SK, Kweon SS, Park DJ, et al. Genetic association analysis of GDF5 and ADAM12 for knee osteoarthritis. Joint Bone Spine. 2012;79:488–91.CrossRefPubMed
Metadata
Title
Association between GDF5 rs143383 genetic polymorphism and musculoskeletal degenerative diseases susceptibility: a meta-analysis
Authors
Xin Huang
Weiyue Zhang
Zengwu Shao
Publication date
01-12-2018
Publisher
BioMed Central
Published in
BMC Medical Genetics / Issue 1/2018
Electronic ISSN: 1471-2350
DOI
https://doi.org/10.1186/s12881-018-0685-7

Other articles of this Issue 1/2018

BMC Medical Genetics 1/2018 Go to the issue