medigraphic.com
ISSN 2992-8036 (Electronic)
ISSN 2306-4102 (Print)
Órgano Oficial del Colegio Mexicano de Ortopedia y Traumatología

2020, Number 5

<< Back Next >>

Acta Ortop Mex 2020; 34 (5)

Importance of genetics in osteoartrosis

Arellano-Pérez-Vertti RD, Aguilar-Muñiz LS, González-Galarza FF, Prieto-Honojosa AI, Argüello-Astorga R

Language: Spanish
References: 55
Page: 329-335
PDF size: 321.31 Kb.


ABSTRACT

Introduction: The study of our genome has played an important role in the field of personalized medicine and clinical practice becoming a useful tool to assist the medical community in the early diagnosis and treatment of countless diseases; osteoarthritis (OA) is a complex chronic degenerative joint disease, despite the high prevalence of this disease and its great impact on public health, little is currently known about its etiology and risk of progression. The purpose of this review is to show the advances in genetics in the study of osteoartrosis. Methods: The present is a review of the literature of the different aspects in which genetics has developed in the study of osteoartrosis, its scopes and its possible impact on prevention and treatment. Conclusion: The identification of a high number of candidate genes confirms the complex nature of the disease, it seems clear that the degree of expression of different genes is altered between an arthrosic patient and a healthy one. A deeper understanding of the link between the entire genome sequence and the association with well-characterized OA phenotypes will enable the development of biomarkers, report the risk of disease progression and allow better guidance of treatments.


REFERENCES

  1. Topol EJ, Murray SS, Frazer KA. The genomics gold rush. JAMA. 2007; 298(2): 218-21.

  2. Valdes AM, Spector TD. The genetic predisposition to osteoarthritis. IBMS BoneKEy. 2009. 181-9.

  3. Hunter DJ, Bierma-Zeinstra S. Osteoarthritis. Lancet. 2019; 393(10182): 1745-59.

  4. Wang L, Guo L, Tian F, Hao R, Yang T. Analysis of single nucleotide polymorphisms within ADAM12 and risk of knee osteoarthritis in a Chinese Han population. Biomed Res Int. 2015; 2015: 518643.

  5. 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(2): 98-103.

  6. Zengini E, Finan C, Wilkinson JM. The genetic epidemiological landscape of hip and knee osteoarthritis: where are we now and where are we going? J Rheumatol. 2016; 43(2): 260-6.

  7. Kraus VB, Blanco FJ, Englund M, Karsdal MA, Lohmander LS. Call for standardized definitions of osteoarthritis and risk stratification for clinical trials and clinical use. Osteoarthritis Cartilage. 2015; 23(8): 1233-41.

  8. Ren K, Ruan Y, Tang J, Jiang X, Sun H, Nong L, et al. Association of ADAM12 gene polymorphisms with knee osteoarthritis susceptibility. Oncotarget. 2017; 8(44): 77710-21.

  9. Chen D, Shen J, Zhao W, Wang T, Han L, Hamilton JL, et al. Osteoarthritis: toward a comprehensive understanding of pathological mechanism. Bone Res. 2017; 5: 16044.

  10. Poonpet T, Tammachote R, Tammachote N, Kanitnate S, Honsawek S. Association between ADAM12 polymorphism and knee osteoarthritis in Thai population. Knee. 2016; 23(3): 357-61.

  11. Martel-Pelletier J, Barr AJ, Cicuttini FM, Conaghan PG, Cooper C, Goldring MB, et al. Osteoarthritis. Nat Rev Dis Primers. 2016; 2: 16072.

  12. Yang J, Du H, Lv J, Zhang L. Association of rs1137101 polymorphism in LEPR and susceptibility to knee osteoarthritis in a Northwest Chinese Han population. BMC Musculoskelet Disord. 2016; 17: 311.

  13. Macías-Hernández SI, Zepeda-Borbón ER, Lara-Vázquez BI, Cuevas-Quintero NM, Morones-Alba JD, Cruz-Medina E, et al. Prevalence of clinical and radiological osteoarthritis in knee, hip, and hand in an urban adult population of Mexico City. Reumatol Clin. 2020; 16(2 Pt 2): 156-60.

  14. Bijkerk C, Houwing-Duistermaat JJ, Valkenburg HA, Meulenbelt I, Hofman A, Breedveld FC, et al. Heritabilities of radiologic osteoarthritis in peripheral joints and of disc degeneration of the spine. Arthritis Rheum. 1999; 42(8): 1729-35.

  15. Spector TD, MacGregor AJ. Risk factors for osteoarthritis: genetics. Osteoarthritis Cartilage. 2004; 12 (Suppl A): S39-44.

  16. Glyn-Jones S, Palmer AJ, Agricola R, Price AJ, Vincent TL, Weinans H, et al. Osteoarthritis. Lancet. 2015; 386(9991): 376-87.

  17. Chen W, Wang Y, Jiang X. Association of two polymorphisms rs3740199 and rs1871054 at ADAM12 with susceptibility of knee osteoarthritis : a systematic review and meta-analysis. Ann Joint. 2018; 3(29): 1-9.

  18. Hu X, Sun G, Wang W. Association of ADAM 12 polymorphisms with the risk of knee osteoarthritis: meta-analysis of 5,048 cases and 6848 controls. Rheumatol Int. 2017; 37(10): 1659-66.

  19. Kang B, Zhao F, Zhang X, Deng X, He X. Association between the interaction of SMAD3 polymorphisms with body mass index and osteoarthritis susceptibility. Int J Clin Exp Pathol. 2015; 8(6): 7364-70.

  20. Su SL, Yang HY, Lee HS, Huang GS, Lee CH, Liu WS, et al. Gene-gene interactions between TGF-beta/Smad3 signalling pathway polymorphisms affect susceptibility to knee osteoarthritis. BMJ Open. 2015; 5(6): e007931.

  21. Wang T, Liang Y, Li H, Li H, He Q, Xue Y, et al. Single nucleotide polymorphisms and osteoarthritis: an overview and a meta-analysis. Medicine (Baltimore). 2016; 95(7): e2811.

  22. Jiang D, Hao Z, Fan D, Guo W, Xu P, 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(1): 104.

  23. Van Meurs JB. Osteoarthritis year in review 2016: genetics, genomics and epigenetics. Osteoarthritis Cartilage. 2017; 25(2): 181-9.

  24. Castaño-Betancourt MC, Evans DS, Ramos YF, Boer CG, Metrustry S, Liu Y, et al. Novel genetic variants for cartilage thickness and hip osteoarthritis. PLoS Genet. 2016; 12(10): e1006260.

  25. Styrkarsdottir U, Helgason H, Sigurdsson A, Norddahl GL, Agustsdottir AB, Reynard LN, et al. Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis. Nat Genet. 2017; 49(5): 801-5.

  26. Yau MS, Yerges-Armstrong LM, Liu Y, Lewis CE, Duggan DJ, Renner JB, et al. Genome-wide association study of radiographic knee osteoarthritis in North American Caucasians. Arthritis Rheumatol.. 2017; 69(2): 343-51.

  27. Casalone E, Tachmazidou I, Zengini E, Hatzikotoulas K, Hackinger S, Suveges D, et al. A novel variant in GLIS3 is associated with osteoarthritis. Ann Rheum Dis. 2018; 77(4): 620-3.

  28. Liu Y, Yau MS, Yerges-Armstrong LM, Duggan DJ, Renner JB, Hochberg MC, et al. Genetic determinants of radiographic knee osteoarthritis in African Americans. J Rheumatol. 2017; 44(11): 1652-8.

  29. Na Y, Bai R, Zhao Z, Wei Y, Li D, Wang Y, et al. IL1R1 gene polymorphisms are associated with knee osteoarthritis risk in the Chinese Han population. Oncotarget. 2017; 8(3): 4228-33.

  30. Kerna I, Kisand K, Tamm AE, Kumm J, Tamm AO. Two single-nucleotide polymorphisms in ADAM12 gene are associated with early and late radiographic knee osteoarthritis in Estonian population. Arthritis. 2013; 2013: 878126.

  31. Sharma AC, Srivastava RN, Srivastava SR, Parmar D, Singh A, Raj S. Association between single nucleotide polymorphisms of SMAD3 and BMP5 with the risk of knee osteoarthritis. J Clin Diagn Res. 2017; 11(6): GC01-4.

  32. Chu M, Rong J, Wang Y, Zhu L, Xing B, Tao Y, et al. Strong association of the polymorphisms in PBEF1 and knee OA risk: a two-stage population-based study in China. Sci Rep. 2016; 6: 19094.

  33. Huetink K, van der Voort P, Bloem JL, Nelissen RG, Meulenbelt I. Genetic contribution to the development of radiographic knee osteoarthritis in a population presenting with nonacute knee symptoms a decade earlier. Clin Med Insights Arthritis Musculoskelet Disord. 2016; 9: 57-63.

  34. 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.

  35. Garcia-Alvarado F, Rosales-Gonzalez M, Arellano-Perez-Vertti D, Espino-Silva P, Meza-Velazquez M, Ruiz-Flores P. Association between the SNP rs143383 + 104T/C in the GDF5 gene and the risk of knee osteoarthritis in a population from Northern Mexico: a case-control study. Genet Test Mol Biomarkers. 2018; 22(8): 503-6.

  36. Zhang L, Zhang L, Zhang H, Wang W, Zhao Y. Association between SMAD3 gene rs12901499 polymorphism and knee osteoarthritis in a Chinese population. J Clin Lab Anal. 2018; 32(5): e22383.

  37. Huang W, Deng C, Tian F, Gao W, Ding Z, Rao X, et al. A case-control study and meta-analysis reveal the association between COX-2 G-765C polymorphism and primary end-stage hip and knee osteoarthritis. J Clin Lab Anal. 2018; 32(6): e22412.

  38. Chu M, Zhu X, Wang C, Rong J, Wang Y, Wang S, et al. The rs4238326 polymorphism in ALDH1A2 gene potentially associated with non-post traumatic knee osteoarthritis susceptibility: a two-stage population-based study. Osteoarthritis Cartilage. 2017; 25(7): 1062-7.

  39. Blanco FJ, Moller I, Romera M, Rozadilla A, Sanchez-Lazaro JA, Rodriguez A, et al. Improved prediction of knee osteoarthritis progression by genetic polymorphisms: the Arthrotest study. Rheumatology (Oxford). 2015; 54(7): 1236-43.

  40. 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. Inflammation research. Inflamm Res. 2015; 64(6): 405-14.

  41. Wu Z, Xu XW, Zhang XW. The association of ADAM12 polymorphism with osteoarthritis susceptibility: a meta-analysis. Ther Clin Risk Manag. 2017; 13: 821-30.

  42. Lou S, Zhao Z, Qian J, Zhao K, Wang R. Association of single nucleotide polymorphisms in ADAM12 gene with susceptibility to knee osteoarthritis: a case-control study in a Chinese Han population. Int J Clin Exp Pathol. 2014; 7(8): 5154-9.

  43. Lv ZT, Liang S, Huang XJ, Cheng P, Zhu WT, Chen AM. Association between ADAM12 single-nucleotide polymorphisms and knee osteoarthritis: a meta-analysis. Biomed Res Int. 2017; 2017: 5398181.

  44. Hao Z, Li X, Dai J, Zhao B, Jiang Q. Genetic effects of rs3740199 polymorphism in ADAM12 gene on knee osteoarthritis: a meta-analysis. Journal of Orthopaedic Surgery and Research. 2017; 12(1): 94.

  45. Gálvez-Rosas A, González-Huerta C, Borgonio-Cuadra VM, Duarte-Salazár C, Lara-Alvarado L, de los Ángeles Soria-Bastida M, et al. A COL2A1 gene polymorphism is related with advanced stages of osteoarthritis of the knee in Mexican Mestizo population. Rheumatol Int. 2010; 30(8): 1035-9.

  46. Magana J, Galvez-Rosas A, Gonzalez-Huerta C, Duarte-Salazar C, Lara-Alvarado L, Soria-Bastida M, et al. Association of the calcitonin gene (CA) polymorphism with osteoarthritis of the knee in a Mexican mestizo population. Knee. 2010; 17(2): 157-60.

  47. Arellano R, Hernandez F, Garcia-Sepulveda C, Velasco V, Loera C, Arguello J. 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): 826-31.

  48. González-Huerta NC, Borgonio-Cuadra VM, Zenteno JC, Cortés-González S, Duarte-Salazar 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. 2017; 20(12): 1935-41.

  49. Fernandez-Torres J, Hernandez-Diaz C, Espinosa-Morales R, Camacho-Galindo J, Galindo-Sevilla NC, Lopez-Macay A, et al. Polymorphic variation of hypoxia inducible factor-1 A (HIF1A) gene might contribute to the development of knee osteoarthritis: a pilot study. BMC Musculoskelet Disord. 2015; 16: 218.

  50. Pilotto A, Seripa D, Franceschi M, Scarcelli C, Colaizzo D, Grandone E, et al. Genetic susceptibility to nonsteroidal anti-inflammatory drug-related gastroduodenal bleeding: role of cytochrome P450 2C9 polymorphisms. Gastroenterology. 2007; 133(2): 465-71.

  51. Perkins JR, Acosta-Herrera M, Plaza-Serón MC, Jurado-Escobar R, Doña I, García-Martín E, et al. Polymorphisms in CEP68 gene associated with risk of immediate selective reactions to non-steroidal anti-inflammatory drugs. Pharmacogenomics J. 2019; 19(2): 191-9.

  52. Doubova SV, Perez-Cuevas R. Quality of care for hip and knee osteoarthritis at family medicine clinics: lessons from Mexico. Int J Quality Health Care. 2015; 27(2): 125-31.

  53. Nelson AE. Osteoarthritis year in review 2017: clinical. Osteoarthritis Cartilage. 2018; 26(3): 319-25.

  54. 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(1): 136-40.

  55. Mishra A, Srivastava RN, Awasthi S, Parmar D, Mishra P. Expression of genes and their polymorphism influences the risk of knee osteoarthritis. J Nucleic Acids. 2017; 2017: 3138254.




2020     |     www.medigraphic.com