Association between aspartic acid repeat polymorphism of the asporin gene and risk of knee osteoarthritis: A systematic review and meta-analysis

Objective: Studies have assessed the association between aspartic acid (D)-repeat polymorphism in the gene encoding Asporin (ASPN) and knee osteoarthritis (KOA) risk, but the results were inconclusive and contradictory. Therefore, we performed a meta-analysis to investigate the association between ASPN gene D-repeat polymorphism and KOA risk. Methods: Eligible studies were identified by searching several electronic databases for relevant reports published before September 2016. The pooled odds ratios (ORs) for the association between ASPN polymorphism and KOA and their corresponding 95% confidence intervals (CIs) were estimated using the random- or fixed-effect model. Results: A total of eleven case-control studies in ten publications with 4610 KOA cases and 3621 controls were included for the ASPN D-repeat polymorphism. Overall, no significant association was detected for D14 allele carrier (D14 vs. D13: OR = 1.10, 95% CI = 0.90e1.36, p = 0.32). Meta-analysis of D14 vs. other alleles and D13 vs. other alleles showed the same pattern of KOA association as the D14 vs. D13 (OR = 1.30, 95% CI = 1.00e1.70, p = 0.06; OR = 0.93, 95% CI = 0.82e1.06, p = 0.33, respectively). Also, in the stratified analysis by ethnicity, no significant association of this polymorphism with risk of KOA was found in the European and Asians populations (OR = 1.05, 95% CI = 0.91e1.21, p = 0.49; OR = 0.98, 95% CI = 0.78e1.23, p = 0.88, respectively). Conclusions: The present meta-analysis suggests that the ASPN D-repeat polymorphism is not associated with an increased KOA risk. However, future large studies with gene-gene and gene-environment interactions are needed to validate these findings.

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1. Loeser R. Age-related changes in the musculoskeletal system and the development of osteoarthritis. Clin Geriatr Med. 2010;26(3):371e386.

2. World Health Organization. The Global Burden of Disease: 2004 Update. 2004.

3. Jia L, Wang Y, Chen J, Chen W. Efficacy of focused low-intensity pulsed ultrasound therapy for the management of knee osteoarthritis: a randomized, double blind, placebo-controlled trial. Sci Rep. 2016;6:35453.

4. a) Heidari B. Knee osteoarthritis prevalence, risk factors, pathogenesis and features: part I. Caspian J Intern Med. 2011;2(2):205e212; b) Zhu L, Yang S, Wang S, Gong H, Li L, Wei X. Effectiveness and safety of manufactured Chinese herbal formula for knee osteoarthritis: insights from a systematic review. Evid Based Complement Alternat Med. 2015;2015:1e19.

5. Zhang Y, Jordan JM. Epidemiology of osteoarthritis. Clin Geriatr Med. 2010;26: 355e369.

6. King Lauren K, March Lyn, Anandacoomarasamy Ananthila. Obesity & osteoarthritis. Indian J Med Res. 2013;138:185e193.

7. Klußmann A, Gebhardt H, Liebers F, et al. Individual and occupational risk factors for knee osteoarthritis e study protocol of a case control study. BMC Musculoskelet Disord. 2008;9(1).

8. Reynard Loughlin J. The genetics and functional analysis of primary osteoarthritis susceptibility. Expert Rev Mol Med. 2013;15.

9. Salter D, Su S, Lee H. Epidemiology and genetics of osteoarthritis. J Med Sci. 2014;34(6):252.

10. Spector T, Cicuttini F, Baker J, Loughlin J, Hart D. Genetic influences on osteoarthritis in women: a twin study. BMJ. 1996;312(7036):940e943.

11. Steinberg J, Zeggini E. Functional genomics in osteoarthritis: past, present, and future. J Orthop Res. 2016;34(7):1105e1110.

12. Castano Betancourt M, Cailotto F, Kerkhof H, et al. Genome-wide association and functional studies identify the DOT1L gene to be involved in cartilage thickness and hip osteoarthritis. Proc Natl Acad Sci U S A. 2012;109(21): 8218e8223.

13. Kizawa H, Kou I, Iida A, et al. An aspartic acid repeat polymorphism in asporin inhibits chondrogenesis and increases susceptibility to osteoarthritis. Nat Genet. 2005;37(2):138e144.

14. Mustafa Z, Dowling B, Chapman K, Sinsheimer JS, Carr A, Loughlin J. Investigating the aspartic acid (D) repeat of asporin as a risk factor for osteoarthritis in a UK Caucasian population. Arthritis Rheum. 2005;52(11):3502e3506.

15. Kaliakatsos M, Tzetis M, Kanavakis E, et al. Asporin and knee osteoarthritis in patients of Greek origin. Osteoarthr Cartil. 2006;14(6):609e611.

16. Jiang Q, Shi D, Yi L, et al. Replication of the association of the aspartic acid repeat polymorphism in the asporin gene with knee osteoarthritis susceptibility in Han Chinese. J Hum Genet. 2006;51(12):1068e1072.

17. Atif U, Philip A, Aponte J, et al. Absence of association of asporin polymorphisms and osteoarthritis susceptibility in US Caucasians. Osteoarthr Cartil. 2008;16(10):1174e1177.

18. Song JH, Lee HS, Kim CJ, et al. Aspartic acid repeat polymorphism of the asporin gene with susceptibility to osteoarthritis of the knee in a Korean population. Knee. 2008;15(3):191e195.

19. Arellano RD, Hernandez F, Garcia-Sepulveda CA, Velasco VM, Loera CR, Arguello JR. The D-repeat polymorphism in the ASPN gene and primary knee osteoarthritis in a Mexican mestizo population: a case-control study. J Orthop Sci. 2013;18(5):826e831.

20. Jazayeri R, Qoreishi M, Hoseinzadeh HR, et al. Investigation of the asporin gene polymorphism as a risk factor for knee osteoarthritis in Iran. Am J Orthop (Belle Mead NJ). 2013;42(7):313e316.

21. Gonzalez-Huerta N, Borgonio-Cuadra V, Zenteno J, Cort es-Gonz alez S, DuarteSalazar C, Miranda-Duarte A. D14 repeat polymorphism of the asporin gene is associated with primary osteoarthritis of the knee in a Mexican Mestizo population. Int J Rheum Dis. 2015 Dec 1. http://dx.doi.org/10.1111/1756- 185X.12797 [Epub ahead of print].

22. Xing D, Ma X, Ma J, et al. Association between aspartic acid repeat polymorphism of the asporin gene and susceptibility to knee osteoarthritis: a genetic meta-analysis. Osteoarthr Cartil. 2013;21(11):1700e1706.

23. Higgins J. Measuring inconsistency in meta-analyses. BMJ. 2003;327(7414): 557e560.

24. DerSimonian R, Laird N. Meta-analysis in clinical trials. Control Clin Trials. 1986;7(3):177e188.

25. Thabane L, Mbuagbaw L, Zhang S, et al. A tutorial on sensitivity analyses in clinical trials: the what, why, when and how. BMC Med Res Methodol. 2013;13: 92.

26. Begg CB, Mazumdar M. Operating characteristics of a rank correlation test for publication bias. Biometrics. 1994;50(4):1088e1101.

27. Egger M, Davey Smith G, Schneider M, Minder C. Bias in meta-analysis detected by a simple, graphical test. BMJ. 1997;315(7109):629e634.

28. Ji J, Dai J, Shi D, Jiang Q. Association of genetic and mechanical factors with age of onset of knee osteoarthritis. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010;27(6):672e674.

29. Shi D, Nakamura T, Dai J, et al. Association of the aspartic acid-repeat polymorphism in the asporin gene with age at onset of knee osteoarthritis in Han Chinese population. J Hum Genet. 2007;52(1):664e667.

30. Rodriguez-Lopez J, Pombo-Suarez M, Liz M, Gomez-Reino JJ, Gonzalez A. Lack of association of a variable number of aspartic acid residues in the asporin gene with osteoarthritis susceptibility: case-control studies in Spanish Caucasians. Arthritis Res Ther. 2006;8(3):R55.

31. Riyazi N, Rosendaal F, Slagboom E, Kroon H, Breedveld F, Kloppenburg M. Risk factors in familial osteoarthritis: the GARP sibling study. Osteoarthr Cartil. 2008;16(6):654e659.

32. Shen J, Li S, Chen D. TGF-b signaling and the development of osteoarthritis. Bone Res. 2014;2:14002.

33. Xu L, Li Z, Liu S, Xu S, Ni G. Asporin and osteoarthritis. Osteoarthr Cartil. 2015;23(6):933e939.

34. Ilea C, Lupan I, Leucuta DC, Lucaciu D. Investigation of asporin gene polymorphism (rs387906276) as a risk factor for primary hip osteoarthritis in Romanian population. Med Con Oct. 2015;10(3):13e18.

35. Nakamura T, Shi D, Tzetis M, et al. Meta-analysis of association between the ASPN D-repeat and osteoarthritis. Hum Mol Genet. 2007;16(14):1676e1681.

36. Button K, Ioannidis J, Mokrysz C, et al. Power failure: why small sample size undermines the reliability of neuroscience. Nat Rev Neurosci. 2013;14(5), 442e442.

37. Haidich AB. Meta-analysis in medical research. Hippokratia. 2010;14(suppl 1): 29e37.
Acta Orthopaedica et Traumatologica Turcica-Cover
  • ISSN: 1017-995X
  • Başlangıç: 2015
  • Yayıncı: Türk Ortopedi ve Travmatoloji Derneği
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