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MODERN VIEWS ON THE PATHOGENESIS AND GENETICS OF OSTEOARTHRITIS

https://doi.org/10.1234/XXXX-XXXX-2013-3-3-10

Abstract

 

 

Osteoarthritis (M15-M19) — a disease of varying etiology with specific biological, morphological and clinical characteristics, which are based on damage of all components of the joint — the cartil age, subchondral bone, synovium, ligaments, periarticular muscles capsules. The etiology of this disease has not been established. According to the results of studies in recent years, an increasing role in the pathogenesis of osteoarthritis is given to genetic component. In this review the major achievements and trends in the field of ge-netl cs of osteoarthritis, as well as stud l es of epigenetic factors in the development of the disease are highl ighted.

 

About the Authors

A. V. Tyurin
Bashkir State Med i cal University, Ufa, Lenin street, 3
Russian Federation


R. I. Khusainova
Institute of Biochem i stry and Genetics
Russian Federation


R. A. Davletshin
Bashkir State Med i cal University
Russian Federation


E. K. Khusnutdinova
Institute of Biochem i stry and Genetics
Russian Federation


References

1. Артриты и хроническая суставная боль // Medicus armi-cus. — 2003. — №1. — С. 15.

2. Берглезов М.А., Угнивенко В.И., Надгериев В.М. Комплексное лечение больных с тяжёлыми нарушениями функции нижних конечностей в амбулаторных условиях: Пособие для врачей. — М.: ЦИТО, 1999. — 28 с.

3. Митрофанов В.А. Остеоартроз: факторы риска, патогенез и современная терапия // Саратовский научно-медицинский журнал. — 2008. — №2. — C. 23—30.

4. Цветкова Е.С. Остеоартроз // Ревматические болезни / Под ред. В.А. Насонова, Н.В. Бунчук. — М.: Медицина, 1997. — С. 335—348.

5. Abramson S.B. Developments in the scientific understanding of osteoarthritis // Ar-hri-is Res. Ther. — 2009. — №11. — P. 227.

6. Alakokko L. Single base mutation in the type II procollagen gene (COL2AI) as a cause of primary osteoarthritis associated with a mild chondrodysplasia // Proc. Natl. Acad. Sci. — 1990. — Vol. 87. — P. 6565—6568.

7. Alexopoulos L.G. Developmental and osteoarthritic changes in Col6a1 knockout mice: the biomechanics of coll agen VI in the cartilage pericellular matrix // Arthritis Rheum. — 2009. — Vol. 60, №3. — P. 771—779.

8. Appleton C.T. G. Global Analyses of Gene Expression in Early Experimental Osteoarthritis // Arthritis Rheum. — 2007. — Vol. 56, №6. — P. 1854—1868.

9. Briggs M.D. Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia-Multiple Epiphyseal Dysplasia Disease Spectrum // Am. J. Hum. Genet. — 1998. — Vol. 62. — P. 311—319.

10. Chapman K., Valdes A.M. Genetic factors in OA pathogenesis // Bone. — 2012. — Vol. 51. — P. 258—2640.

11. Chen H.C. Inverse Association of General Joint Hypermobility With Hand and Knee Osteoarthritis and Serum Cartilage Oligomeric Matrix Protein Levels // Arthritis Rheum. — 2008. — Vol. 58, №12. — P. 3854—3864.

12. Cheng S. Association of polymorphisms in the peroxisome proliferator-activated receptor c gene and osteoarthritis of the knee // Ann. Rheum. Dis. — 2006. — Vol. 65. — P. 1394—1397.

13. Cicuttini F.M. Genetics of osteoarthritis // Ann. Rheum. Dis. — 1996. — Vol. 55. — P. 665—676.

14. Day-Williams A.G. A Variant in MCF2L Is Associated with Osteoarthritis // Am. J. Hum. Genet. — 2011. — №9. — P. 446—450.

15. Frey R.J., Olendorf D., Jeryan C., Boyden K. The Gale encyclopedia of medicine: osteoarthritis. — Farmington Hills, MI: Gale Research Group, 1999.

16. Gu J., J., F. et al. MATN3 Gene Polymorphism Is Associated with Osteoarthritis in Chinese Han Population: A Community-Based Case-Control Study [Electronic resource] // Sci. World J. — 2012. URL http://www.ncbi.nlm.nih.gov/pmc/ artic-les/PMC3432353/

17. Han L. TNF-а and TNF-P Polymorphisms are Associated with Susceptibility to Osteoarthritis in a Korean Population // Korean J. Pathol. — 2012. — Vol. 46. — P. 30—37.

18. Helminen H.J. An Inbred Line of Transgenic Mice Expressing an Internally Deleted Gene for Type 11 Procollagen (COL2A1) // J. Clin. Invest. — 1993. — Vol. 92. — P. 582—595.

19. Hoornaert K.P. Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients // Eur. J. Hum. Genet. — 2010. — №18. — P. 872—881.

20. Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study // — 2012. — №9844. — P. 815—823.

21. Ishimori M.L. Heritability patterns in hand osteoarthritis: the ro-e of os-eophy-es // Arth-i-is Res. Ther. — 2010. — №12. — P. R180.

22. Jacqueline E.O. What epidemiology has told us about risk factors and aetiopathogenesis in rheumatic diseases // Arthritis Res. Ther. — 2009. — №11. — P. 223.

23. Jalba B.A. Alterations in expression of cartilage-specific genes for aggrecan and collagen type II in osteoarthritis // Rom. J. Morphol. Embryol. — 2011. — Vol. 52, №2. — P. 587—591.

24. Jordan J.M. Cartilage Oligomeric Matrix Protein as a Marker of Osteoarthritis [Electronic resource] // J. Rheumatol. — 2004. — Vol. 31. — Suppl. 70. URL: http://www.jrheum.com/ sub-cri-bers/04/70/45.html

25. Jung W.W. COMP and Col9A3 mutations and their relationship to the pseudoachondroplasia phenotype // Int. J. Mol. Med. — 2010. — Vol. 26. — P. 885—891.

26. Kerkhof H.J., Doher-y M., Arden N.K. et al. Large-sca-e-meta-analysis of interleukin-1 beta and interleukin-1 receptor antagonist polymorphisms on risk of radiographic hip and knee osteoarthritis and severity of knee osteoarthritis // Osteoarthr. Cartil. — 2011. — Vol. 19, №3. — P. 265—271.

27. Kerkhof H.J.M. A Genome-Wide Association Study identifies a locus on chromosome 7q22 to influence susceptibility for osteoarthritis // Arthritis Rheum. — 2010. — Vol. 62, №2. — P. 499—510.

28. Kerkhof H.J.M., Meulenbelt I., CarrA. et al. Common genetic variation in the Estrogen Receptor Beta (ESR2) gene and osteoarthritis: results of a meta-analysis // BMC Mol. Biol. — 2010. — №11. — P. 164.

29. Koelling S. Cartilage oligomeric matrix protein is involved in human limb development and in the pathogenesis of osteoarthritis // Arthritis Res. Ther. — 2006. — №8. — P. R56.

30. Little C.B. Matrix metalloproteinase-13 deficient mice are resistant to osteoarthritic cartilage erosion but not chondrocyte hypertrophy or osteophyte development // Arthritis Rheum. — 2009. — Vol. 60, №12. — P. 3723—3733.

31. Lorenz H. Early and stable upregulation of collagen type II, collagen type I and YKL40 expression levels in cartilage during early experimental osteoarthritis occurs independent of joint location and histo-ogical grading // Arthritis Res. Ther. — 2005. — №7. — P. R156—R165.

32. Meulenbelt I. Genetic linkage analysis of 14 candidate gene loci in a family with autosomal dominant osteoarthritis without dys-p-asia // J. Med. Genet. — 1997. — Vol. 34. — P. 1024—1027.

33. Murray L.W. Type 11 Collagen Defects in the Chondrodysplasias. Spondyloepiphyseal Dysplasias // Am. J. Hum. Genet. — 1989. — Vol. 45. — P. 5—15.

34. Nakajima M. New Sequence Variants in HLA Class II/III Region Associated with Susceptibility to Knee Osteoarthritis Identified by Genome-Wide Association Study [Electronic resource] // PLoS One. — Vol. 5, Issue 3. — e9723.

35. Nakki A. Allelic variants of gene associate with IL1R1 severe hand osteoarthritis // Med. Genet. — 2010. — №11. — P. 50.

36. Panoutsopoulou K. Insights into the genetic architecture of osteoarthritis from stage 1 of the arcOGEN study // Ann. Rheum. Dis. — 2011. — Vol. 70. — P. 864—867.

37. Pattrick M. HLA-A, B antigens and a1-antitrypsin phenotypes in nodal generalised osteoarthritis and erosive osteoarthritis // Ann. Rheum. Dis. — 1989. — Vol. 48. — P. 470—475.

38. Pirog K.A. A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia // Hum. Mol. Genet. — 2010. — Vol. 19, №1. — P. 52—64.

39. Posey K.L. RNAi Reduces Expression and Intracellular Retention of Mutant Cartilage Oligomeric Matrix Protein [Electronic resource] // PLoS One. — 2010. — Vol. 5, Issue 4. — e10302.

40. Reynard L.N., Louling J. Genetics and epigenetics of osteoarthritis // Maturitas. — 2012. — Vol. 71. — P. 200—204.

41. Sex and Ethnic Differences in the Association of ASPN, CALM1, COL2A1, COMP, and FRZB With Genetic Susceptibility to Osteoarthritis of the Knee // Arthritis Rheum. — 2007. — Vol. 56, №1. — P. 137—146.

42. Stecher R.M. Heberden’s nodes: the clinical characteristic of osteoarthritis of the fingers // Ann. Rheum. Dis. — 1941. — №7. — P. 1—8.

43. Stefa’nsson S.E. Genome-wide Scan for Hand Osteoarthritis: A Novel Mutation in Matrilin-3 // Am. J. Hum. Genet. — 2003. — Vol. 72. — P. 1448—1459.

44. Tawonsawatruk T. A genetic association study between growth differentiation factor 5 (GDF 5) polymorphism and knee osteoarthritis in Thai population // J. Orthop. Surg. Res. — 2011. — №6. — P. 47.

45. Valdes A.M. The Ile585Val TRPV1 variant is involved in risk of painful knee osteoarthritis // Ann. Rheum. Dis. — 2011. — Vol. 70. — P. 1556—1561.

46. Valdes A.M. Large Scale Replication Study of the Association between HLA Class II/BTNL2 Variants and Osteoarthritis of the Knee in European-Descent Populations [Electronic resource] // PLoS ONE. — 2011. — Vol. 6, Issue 8. — e23371.

47. Valdes A.M., Spector T.D. Genetic epidemiology of hip and knee osteoarthritis [Electronic resource] // Rheumatology. — 2011. — Vol. 7. URL: http://211. 144.68.84:9998/ 91keshi/Public/Fi-le/7/7-1/ pdf/nrrheum.2010.191.pdf

48. Van Meurs J.B.J, Uitterlinden A.G., Osteoarthritis year 2012 in review: genetics and genomics // Osteoarthritis and Cartilage. — 2012. — P. 1—7.

49. Wang Q. Identification of a central role for complement in osteoarthritis // Nat. Med. — Vol. 17, №12. — P. 1674—1679.

50. Zhai G., Hart D.J., Kato B.S. et al. Genetic influence on the progression of radiographic knee osteoarthritis: a longitudinal twin study // Osteoarthr. Cartil. — 2007. — Vol. 15. — P. 222—225.


Review

For citations:


Tyurin A.V., Khusainova R.I., Davletshin R.A., Khusnutdinova E.K. MODERN VIEWS ON THE PATHOGENESIS AND GENETICS OF OSTEOARTHRITIS. Medical Genetics. 2013;12(3):3-10. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2013-3-3-10

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