Preview

Медицинский вестник Юга России

Расширенный поиск

ПОЛИМОРФИЗМЫ ГЕНОВ КАК ФАКТОР РИСКА РАЗВИТИЯ ОСТЕОАРТРОЗА

https://doi.org/10.21886/2219-8075-2014-2-13-20

Аннотация

Известно, что остеоартроз как распространенная форма дегенеративной патологии сустава имеет важный генетический компонент. Проведен анализ литературных источников, касающихся роли различных кандидатных генов в развитии остеоартроза, при этом много внимания уделено полиморфизму генов матриксных металлопротеиназ, их ингибиторов и генов интерлейкинов. Статья детально описывает результаты современных полногеномных анализов и мета-анализов ассоциаций полиморфизмов с данным заболеванием. Также обсуждается вопрос связи эпигенетических изменений и риска развития остеоартроза.

Об авторе

С. Б. Панина
Южный федеральный университет
Россия
кафедра биохимии и микробиологии


Список литературы

1. Баранов В.С. Генетический паспорт -основа индивидуальной и предиктивной медицины. -СПб.: Изд-во Н-Л, 2009. -528 с.

2. Krasnokutsky S., Attur M., Palmer G.et al. Current concepts in the pathogenesis of osteoarthritis//Osteoarthr. Cartil. 2008. Vol.16. S1-S3.

3. Valdes A.M., Hart D.J., Jones K.A. et al. Association study of candidate genes for the prevalence and progression of knee osteoarthritis//Arthritis Rheum. 2004. Vol. 50. P. 2497-507.

4. Valdes A.M., Doherty M., Spector T.D. The additive effect of individual genes in predicting risk of knee osteoarthritis//Ann. Rheum. Dis. 2008. Vol. 67. P. 124-127.

5. Reynard L.N., Louhlin J. Genetics and epigenetics of osteoarthritis//Maturitas. 2012. Vol. 71. No. 3. P. 200-204.

6. Burrage P.S., Mix K.S., Brinckerhoff C.E. Matrix metalloproteinases: Role in arthritis//Front. Biosci. 2006. Vol.11. P. 529-543.

7. Khan I.M., Redman S.N., Williams R. et al. The development of synovial joints//Curr. Top. Dev. Biol. 2007. Vol. 79. P. 1-36.

8. Valdes A.M., Doherty S., Muir K.R. et al. Genetic contribution to radiographic severity in osteoarthritis of the knee//Ann. Rheum. Dis. 2012. Vol. 71. No. 9. P. 1537-1540.

9. Kerkhof H.J.M., Lories R.J., Meulenbelt I. et al. A genome-wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22//Arthritis Rheum. 2010. Vol. 62. No. 2. P. 499-510.

10. Evangelou E., Valdes A.M., Kerkhof H.J.M. Meta-analyses of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22//Ann. Rheum. Dis. 2011. Vol. 70. P. 349-355.

11. Panoutsopoulou K., Southam L., Elliott K.S. et al. Insights into the genetic architecture of osteoarthritis from stage 1 of the arcOGEN study//Ann. Rheum. Dis. 2011. Vol. 70. P. 864-867.

12. Valdes A.M., Spector T.D. The clinical relevance of genetic susceptibility to osteoarthritis//BestPract. Res. Cl. Rh. 2010. Vol.24. P. 3-14.

13. Lee Y.H., Rho Y.H., Choi S.J. et al. Osteoarthritis susceptibility loci defined by genome scan meta-analysis//Rheumatol. Int. 2006. Vol. 26. No. 11. P. 996-1000.

14. Peach C.A., Carr A.J., Loughlin J. Recent advances in the genetic investigation of osteoarthritis//Trends Mol. Med. 2005. Vol. 11. No. 4. P. 186-191;

15. Kerkhof J.M., Uitterlinden A.G., Valdes A.M. et al. Radiographic osteoarthritis at three joint sites and FRZB, LRP5 and LRP6 polymorphisms in two population-based cohorts//Osteoarthr. Cartil. 2008. Vol. 16. P. 1141-1149.

16. Loughlin J., Dowling B., Chapman K. et al. Functional variants within the secreted frizzled-related protein 3 gene are associated with hip osteoarthritis in females//Proc. Natl. Acad. Sci. USA. 2004. Vol. 101. No. 26. P. 9757-62.

17. Rodriguez-Lopez J., Pombo-Suarez M., Liz M. et al. Further evidence of the role of frizzled-related protein gene polymorphisms in osteoarthritis//Ann. Rheum. Dis. 2007. Vol. 66. P. 1052-1055.

18. Forster T., Chapman K., Loughlin J. Common variants within the interleukin 4 receptor α gene (IL4R) are associated with susceptibility to osteoarthritis//Hum. Genet. 2004. Vol. 114. P. 391-395.

19. Valdes A.M., Hart D.J., Jones K.A. et al. Association study of candidate genes for the prevalence and progression of knee osteoarthritis//Arthritis Rheum. 2004. Vol. 50. No. 8. P. 2497-2507.

20. Parks W.C., Wilson C.L., Lopez-Boado Y.S. Matrix metalloproteinases as modulators of inflammation and innate immunity//Nat. Rev. Immunol. 2004. Vol. 4. P. 617-629.

21. Yoshihara Y., Nakamura H., Obata K. et al. Matrix metalloproteinases and tissue inhibitors of metalloproteinases in synovial fluids from patients with rheumatoid arthritis or osteoarthritis//Ann. Rheum. Dis. 2000. Vol. 59. P. 455-461.

22. Chen Y., Nixon N.B., Dawes P.T., Mattey D.L. Influences of variations across the MMP-1 and MMP-3 genes on the serum levels of MMP-1 and -3 and disease activity in rheumatoid arthritis//Genes Immun. 2012. Vol. 13. P. 29-37.

23. Valdes A.M., Spector T.D., Tamm A. et al. Genetic variation in the SMAD3 gene is associated with hip and knee osteoarthritis//Arthritis Rheum. 2010. Vol. 62. No. 8. P. 2347-2352.

24. Rutter J.L., Mitchell T.I., Buttice G. et al. A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription//Cancer Res. 1998. Vol. 58. P. 5321-5325.

25. Malik M.H.A., Jury F., Bayat A. et al. Genetic susceptibility to total hip arthroplasty failure: a preliminary study on the influence of matrix metalloproteinase 1, interleukin 6 polymorphisms and vitamin D receptor//Ann. Rheum. Dis.2007. Vol. 66. P. 1116-1120.

26. Taskin N., Ulucan K., Degin K. et al. Investigation of the MMP1 and MMP3 promoter polymorphisms in temporomandibular joint disorder//J. Cell Mol. Biol. 2011. Vol. 9. No. 1. P. 63-68.

27. Planello A.C., Campos M.I.G., Meloto C.B. et al. Association of matrix metalloproteinase gene polymorphism with temporomandibular joint generation//Eur. J.Oral Sci. 2011. Vol. 119. P. 1-6.

28. Achari Y., Lu T., Hart D.A. Polymorphisms in the promoter regions for human MMP-1 and MMP-13 lead to differential responses to the alpha and beta isoforms of estrogen receptor and their ligand in vitro//Biochim. Biophys.Acta (BBA) -Molecular Basis of Disease. 2008. Vol. 1782. No.6. P. 391-400.

29. Riancho J.A., Garcia-Ibarbia C., Gravani A. et al. Common variations in estrogen-related genes are associated with severe large-joint osteoarthritis: a multicenter genetic and functional study//Osteoarthr. Cartil. 2010. Vol. 18. P. 927-933.

30. Borghaei R.C., Gorski G., Javadi M. et al. NF-kB and ZBP-regulate MMP-3 expression via a polymorphic site in the promoter//Biochem. Biophys. Res. Commun. 2009. Vol. 382. No.2. P. 269-273.

31. Ye S. Polymorphism in matrix metalloproteinase gene promoters: implication in regulation of gene expression and susceptibility of various diseases//Matrix Biol. 2000. Vol. 19. P. 623-629.

32. Schneider E.M., Du W., Fiedler J. et al. The (-765 G→C) promoter variant of the COX-2/PTGS2 gene is associated with a lower risk for end-stage hip and knee osteoarthritis//Ann. Rheum. Dis. 2011. Vol. 70. P. 1458-1460.

33. Iliopoulos D., Malizos K.N., Tsezou A. Epigenetic regulation of leptin affects MMP-13 expression in osteoarthritic chondrocytes: possible molecular target for osteoarthritic therapeutic intervention//Ann. Rheum. Dis. 2007. Vol. 66. P. 1616-1621.

34. Lee H.J., Lee G.H., Nah S. et al. Association of TIMP-4 gene polymorphism with the risk of osteoarthritis in the Korean population//Rheumatol. Int. 2008. Vol. 28. No. 9. P. 845-50.

35. Smith A.J.P., Keen L.J., Billingham M.J. et al. Extended haplotypes and linkage disequilibrium in the IL1R1-IL-1A-IL-1B-IL-1RN gene cluster//Genes Immun. 2004. Vol. 5.P.451-460.

36. Moxley G., Meulenbelt I., Chapman K. et al. Interleukin-1 region met-analysis with osteoarthritis phenotypes//Osteoarthr. Cartil. 2009. Vol. 18. P. 200-207.

37. Roach M.I., Yamanda N., Cheung K.S. et al. Association between the abnormal expression of matrix degrading enzymes by human osteoarthritic chondrocytes and demethylation of specific CpG sites in the promoter regions//Arthritis Rheum. 2005. Vol. 52. P. 3110-24.

38. Scott J.L., Gabrielides C., Davidson R.K. et al. Superoxide dismutase downregulation in osteoarthritis progression and end-stage disease//Ann. Rheum. Dis. 2010. Vol. 69. P. 1502-1510.

39. Xiong Y.M., Zou X.Z., Song R.X. et al. Association study between polymorphisms in selenoprotein genes and susceptibility to Kashin-Beck disease//Osteoarthr. Cartil. 2010. Vol. 18. No. 6. P. 817-24.

40. Mansouri F.E.E., Chabane N., Zayed N. et al. Contribution of H3K4 methylation by SET-1A to interleukin-1-induced cyclooxygenase 2 and inducible nitric oxide synthase expression in human osteoarthritic chondrocytes//Arthritis Rheum. 2011. Vol. 63. No. 1. P. 168-179.


Рецензия

Для цитирования:


Панина С.Б. ПОЛИМОРФИЗМЫ ГЕНОВ КАК ФАКТОР РИСКА РАЗВИТИЯ ОСТЕОАРТРОЗА. Медицинский вестник Юга России. 2014;(2):13-20. https://doi.org/10.21886/2219-8075-2014-2-13-20

For citation:


Panina S.B. GENETIC POLYMORPHISMS AS THE RISK FACTOR IN THE DEVELOPMENT OF OSTEOARTHRITIS. Medical Herald of the South of Russia. 2014;(2):13-20. (In Russ.) https://doi.org/10.21886/2219-8075-2014-2-13-20

Просмотров: 366


Creative Commons License
Контент доступен под лицензией Creative Commons Attribution 4.0 License.


ISSN 2219-8075 (Print)
ISSN 2618-7876 (Online)