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Mediterr J Rheumatol 2019;30(2):114-22
Genetic Association Between Growth Differentiation Factor 5 Single Nucleotide Polymorphism and Primary Knee Osteoarthritis in a Group of Egyptian Patients: A Pilot Study
Authors Information

1Physical Medicine, Rheumatology and Rehabilitation Department, 2Clinical and Chemical Pathology Department, Faculty of Medicine, Alexandria University, Egypt

3Physical Medicine, Rheumatology and Rehabilitation Department, Ministry of Health, Alexandria Governorate, Egypt

References
  1. Litwic A, Edwards MH, Dennison EM, Cooper C. Epidemiology and burden of osteoarthritis. British Med Bull 2013;105:185-99. [https://doi.org/10.1093/bmb/lds038] [PMID: 23337796] [PMCID: PMC3690438]
  2. Ganvir SD, Zambare BR. Prevalence and identification of risk factors for knee osteoarthritis among elderly men and women. Sch J App Med Sci 2013;1(6):700-3.
  3. Collins JE, Katz JN, Dervan EE, Losina E. Trajectories and risk profiles of pain in persons with radiographic, symptomatic knee osteoarthritis, data from the osteoarthritis initiative. Osteoarthr Cartil 2014; 22(5):622-30. [https://doi.org/10.1016/j.joca.2014.03.009] [PMID: 24662734] [PMCID: PMC4028704]
  4. Lim SS, Vos T, Flaxman AD, Danaei G, Shibuya K, Adair-Rohani H, et al. A comparative risk assessment of burden of disease and injury attributable to 67 risk factors and risk factor clusters in 21 regions. A systematic analysis for the Global Burden of Disease Study 2010. Lancet 2012; 380:2224-60. [https://doi.org/10.1016/S0140-6736(12)61766-8] [PMID: 23245609] [PMCID: PMC4156511]
  5. Zhang W, Doherty M, Peat G, Bierma-Zeinstra MA, Arden NK, Bresnihan B, et al. EULAR evidence-based recommendations for the diagnosis of knee osteoarthritis. Ann Rheum Dis 2010;69:483-9. [https://doi.org/10.1136/ard.2009.113100] [PMID: 19762361]
  6. Silverwood V, Blagojevic-Bucknall M, Jinks C. Current evidence on risk factors for knee osteoarthritis in older adults: a systematic review and meta-analysis. Osteoarthr Cartil 2015;23:507-15. [https://doi.org/10.1016/j.joca.2014.11.019] [PMID: 25447976]
  7. Hochberg MC, Yerges-Armstrong L, Yau M, Mitchell BD. Genetic epidemiology of osteoarthritis: recent developments and future directions. Curr Opin Rheumatol 2013;25:192-7. [https://doi.org/10.1097/BOR.0b013e32835cfb8e] [PMID: 23249833] [PMCID: PMC3771580]
  8. Pan F, Tian J, Winzenberg T, Ding C, Jones G. Association between GDF5 rs143383 polymorphism and knee osteoarthritis: an updated meta-analysis based on 23,995 subjects. BMC Musculoskelet Disord 2014;15:404. [https://doi.org/10.1186/1471-2474-15-404] [PMID: 25467786] [PMCID: PMC4265459]
  9. Dodd AW, Syddall CM, Loughlin J. A rare variant in the osteoarthritis associated locus GDF5 is functional and reveals a site that can be manipulated to modulate GDF5 expression. Eur J Hum Genet 2013;21:517-21. [https://doi.org/10.1038/ejhg.2012.197] [PMID: 22929025] [PMCID: PMC3641375]
  10. Zhang R, Yao J, Xu P, Ji B, 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. [https://doi.org/10.1007/s00011-015-0818-9] [PMID: 25894512]
  11. Valdes AM, Evangelou E, Kerkhof HJ, Tamm A, Doherty SA, Kisand K, et al. The GDF5 rs143383 polymorphism is associated with osteoarthritis of the knee with genome wide statistical significance. Ann Rheum Dis 2011;70:873-5. [https://doi.org/10.1136/ard.2010.134155] [PMID: 20870806] [PMCID: PMC4699799]
  12. Altman R, Asch E, Bloch D, Bole G, Borenstein D, Brandt K, et al. Development of criteria for the classification and reporting of osteoarthritis. Classification of osteoarthritis of the knee. Diagnostic and Therapeutic Criteria Committee of the American Rheumatism Association. Arthritis Rheum 1986;29:1039-49. [PMID: 3741515]
  13. Salazar SS. Assessment and management of the obese adult female: a clinical update for providers. J Midwifery Women's Health 2006;51:202-7. [https://doi.org/10.1016/j.jmwh.2006.02.002] [PMID: 16647672]
  14. Buckwalter JA, Martin JA. Osteoarthritis. Adv Drug Deliv Rev 2006; 58: 150-67. [https://doi.org/10.1016/j.addr.2006.01.006] [PMID: 16530881]
  15. Ramey DR, Raynauld JP, Fries JF. The health assessment questionnaire: status and review. Arthritis Care Res 1992;5:119-29. [PMID: 1457486]
  16. Flores RH, Hochberg MC. Definition and classification of Osteoarthritis. In: Brandt KD, Doherty M, Lohmander LS (eds).Osteoarthritis. 2nded. New York: Oxford University Press, 2003. p. 1-8.
  17. Haliassos A, Chomel JC, Tesson L, Baudis M, Kruh J, Kaplan JC, et al. Modification of enzymatically amplified DNA for the detection of point mutations. Nucleic Acids Res 1989;17:3606. [https://doi.org/10.1093/nar/17.9.3606] [PMID: 2726503] [PMCID: PMC317818]
  18. Statistical Package of Social Science. IBM SPSS software package version 20.0 (Armonk, NY: IBM Corp).
  19. Tsezou A, Satra M, Oikonomou P, Bargiotas K, Malizos KN. The growth differentiation factor 5 (GDF 5) core promoter polymorphism is not associated with knee osteoarthritis in the Greek population. J Orthopaed Res 2008;26:136-40. [https://doi.org/10.1002/jor.20464] [PMID: 17676627]
  20. Southam l, Lopez JR, Wilkins M, Pombo-Su­arez M, Snelling S, Gomez-Reino JJ, et al. An SNP in the 5’-UTR of GDF5 is associated with osteoarthritis in Europeans and within vivo differences in allelic expression in articular cartilage. Hum Mol Genet 2007;16:2226-32. [https://doi.org/10.1093/hmg/ddm174] [PMID: 17616513]
  21. Cao Z, Lee HS, Wsong JH, Yoon J, 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. [https://doi.org/10.4132/KoreanJPathol.2010.44.4.404]
  22. 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. [https://doi.org/10.1016/j.jbspin.2011.10.016]
  23. Miyamoto Y, Mabuchi A, Shi D, 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. [https://doi.org/10.1038/2005] [PMID: 17384641]
  24. Tawonsawatruk T, Chang T, Pingsuthiwong S, Trachoo O, Sura T, Wajanavisit W, et al. A genetic as­sociation study between growth differentiation factor 5 (GDF 5) polymorphism and knee osteo­arthritis in Thai population. J Orthop Surg Re 2011;6:47. [https://doi.org/10.1186/1749-799X-6-47] [PMID: 21936909] [PMCID: PMC3189142]
  25. Mishra A, Sanghi D, Sharma AC, Saloni R, Maurya SS, Sachin A, et al. Association of polymorphism in growth differentiation factor 5 Gene with osteoarthritis knee. Am J Biochem Biotechnol 2013;9(1):1-7. [https://doi.org/10.3844/ajbbsp.2013.1.7]
  26. Ozcan SS, 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. J Coll Physicians Surg Pak 2017;27(10):602-5. [PMID: 29056119]
  27. Egli RJ, Southam L, Wilkins JM, Lorenzen I, Pombo-Suarez M, Gonzalez A, et al. Functional analysis of the osteoarthritis susceptibility-associated GDF5 regulatory polymorphism. Arthritis Rheum 2009;60:2055-64. [https://doi.org/10.1002/art.24616] [PMID: 19565498]
  28. Reynard LN, Bui C, Canty-Laird EG, Young DA, Loughlin J. Expression of the osteoarthritis-as­sociated gene GDF5 is modulated epigenetical­ly by DNA methylation. Hum Mol Genet 2011;20:3450-60. [https://doi.org/10.1093/hmg/ddr253] [PMID: 21642387]
  29. Syddall CM, Reynard LN, Young DA, Lough­lin J. The identification of trans-acting fac­tors that regulate the expression of GDF5 via the osteoarthritis susceptibility SNP rs143383. PLoS Genet 2013;9(6):e1003557. [https://doi.org/10.1371/journal.pgen.1003557] [PMID: 23825960] [PMCID: PMC3694828]
  30. Reynard LN, Bui C, Syddall CM, Loughlin J. CpG methylation regulates allelic expression of GDF5 by modulating binding of SP1 and SP3 repressor proteins to the osteoarthritis suscep­tibility SNP rs143383. Hum Genet 2014;133:1059-73. [https://doi.org/10.1007/s00439-014-1447-z] [PMID: 24861163] [PMCID: PMC4099533]
  31. Colhoun HM, McKeigue PM, Davey Smith G. Problems of reporting genetic associations with complex outcomes. Lancet 2003;361:865-72. [https://doi.org/10.1016/s0140-6736(03)12715-8] [PMID: 12642066]
  32. Srivastava RN, Mishra A, Raj S. Polymorphic predisposition for clinical and radiological severity in knee osteoarthritis: a case control study. Osteoarthr Cartil 2015;23(2):193-4. [https://doi.org/10.1016/j.joca.2015.02.980]
  33. Minafra L, Bravatà V, Saporito M, Cammarata FP, Forte GI, Caldarella S, et al. Genetic, clinical and radiographic signs in knee osteoarthritis susceptibility. Arthritis Res Ther 2014;16:R91. [https://doi.org/10.1186/ar4535] [PMID: 24716474] [PMCID: PMC4060235]
  34. Valdes AM, Spector TD, Doherty S. Association of the DVWA and GDF5 polymorphisms with osteoarthritis in UK populations. Ann Rheum Dis 2009;68:1916-20. [https://doi.org/10.1136/ard.2008.102236] [PMID: 19054821]
  35. Felson DT, Zhang Y. An update on the epidemiology of knee and hip osteoarthritis with a view to prevention. Arthritis Rheum 1998;41:1343-55. [https://doi.org/10.1002/1529-0131(199808)41:8%3C1343::AID-ART3%3E3.0.CO;2-9] [PMID: 9704632]
  36. Olson EJ, Lindgren BR, Carlson CS. Effects of long-term estrogen replacement therapy on bone turnover in periarticular tibial osteophytes in surgically postmenopausal cynomolgus monkeys. Bone 2008;42:907-13. [https://doi.org/10.1016/j.bone.2007.12.007] [PMID: 18291743] [PMCID: PMC2435307]