Log in

A COL2A1 gene polymorphism is related with advanced stages of osteoarthritis of the knee in Mexican Mestizo population

  • Original Article
  • Published:
Rheumatology International Aims and scope Submit manuscript

Abstract

Primary osteoarthritis (OA) is a multifactorial disease with several genetics factors involved. The COL2A1 gene is of particular interest because it encodes for the most abundant protein in articular cartilage. The aim was to evaluate the association of COL2A1 gene polymorphism with OA of the knee in Mexican Mestizo patients. A case–control study was conducted; cases comprised patients with a radiologic scoring ≥2 and controls with a radiologic scoring <2. DNA was extracted from a peripheral blood sample, the polymorphic site of the COL2A1 gene was submitted to polymerase chain reaction (PCR), and the products were digested using PvuII restriction enzyme. For statistical analysis, a non-conditional logistic regression was developed. There were no associations among alleles in the overall sample, nevertheless, a significant association was found with p (Pp/pp) allele and OA of the knee grade 4 [odds ratio (OR), 95% confidence interval (CI 95%) 4.1 (1.2–14.6)] adjusted by gender, age, and body mass index (BMI). These results suggest an association of a COL2A1 gene polymorphism with advanced stages of OA of the knee in Mexican Mestizo population.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Subscribe and save

Springer+ Basic
EUR 32.99 /Month
  • Get 10 units per month
  • Download Article/Chapter or Ebook
  • 1 Unit = 1 Article or 1 Chapter
  • Cancel anytime
Subscribe now

Buy Now

Price includes VAT (France)

Instant access to the full article PDF.

Fig. 1

Similar content being viewed by others

References

  1. Reginster JY (2002) The prevalence and burden of arthritis. Rheumatology 41(Suppl 1):3–6. doi:10.1093/rheumatology/41.suppl_1.3

    Article  PubMed  Google Scholar 

  2. Sun BH, Wu CW, Kalunian KC (2007) New developments in osteoarthritis. Rheum Dis Clin North Am 33:135–148. doi:10.1016/j.rdc.2006.12.003

    Article  PubMed  Google Scholar 

  3. Felson DT, Naimark A, Anderson J, Kazis L, Castelli W, Meenan RF (1987) The prevalence of knee osteoarthritis in the elderly. The Framingham Osteoarthritis Study. Arthritis Rheum 30:914–918. doi:10.1002/art.1780300811

    Article  CAS  PubMed  Google Scholar 

  4. Spector TD, Hart DJ (1992) How serious is knee osteoarthritis? Ann Rheum Dis 51:1105–1106. doi:10.1136/ard.51.10.1105

    Article  CAS  PubMed  Google Scholar 

  5. Marks R, Allegrante JP (2002) Body mass indices in patients with disabling hip osteoarthritis. Arthritis Res 4:112–116. doi:10.1186/ar387

    Article  PubMed  Google Scholar 

  6. Schouten JS, de Bie RA, Swaen G (2002) An update on the relationship between occupational factors and osteoarthritis of the hip and knee. Curr Opin Rheumatol 14:89–92. doi:10.1097/00002281-200203000-00002

    Article  PubMed  Google Scholar 

  7. Jensen CH, Rofail S (1999) Knee injury and obesity in patients undergoing total knee replacement: a retrospective study in 115 patients. J Orthop Sci 4:5–7. doi:10.1007/s007760050066

    Article  CAS  PubMed  Google Scholar 

  8. Spector TD, Cicuttini F, Baker J, Loughlin J, Hart D (1996) Genetic influences on osteoarthritis in women: a twin study. Br Med J 312:940–943

    CAS  Google Scholar 

  9. Chitnavis J, Sinsheimer JS, Clipsham K, Loughlin J, Sykes B, Burge PD, Carr AJ (1997) Genetic influences in end-stage osteoarthritis. Sibling risks of hip and knee replacement for idiopathic osteoarthritis. J Bone Joint Surg Br 79:660–664. doi:10.1302/0301-620X.79B4.7437

    Article  CAS  PubMed  Google Scholar 

  10. Williams CJ, Ganguly A, Considine E, McCarron S, Prockop DJ, Walsh-Vockley C, Michels VV (1996) A-2 → G transition at the 3′ acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred. Am J Med Genet 63:461–467. doi:10.1002/(SICI)1096-8628(19960614)63:3<461:AID-AJMG9>3.0.CO;2-U

    Article  CAS  PubMed  Google Scholar 

  11. Vikkula M, Palotie A, Ritvaniemi P, Ott J, Ala-Kokko L, Sievers U, Aho K, Peltonen L (1993) Early-onset osteoarthritis linked to the type II procollagen gene: detailed clinical phenotype and further analysis of the gene. Arthritis Rheum 36:401–409. doi:10.1002/art.1780360317

    Article  CAS  PubMed  Google Scholar 

  12. Aerssens J, Dequeker J, Peeters J, Breemans S, Boonen S (1998) Lack of association between osteoarthritis of the hip and gene polymorphisms of VDR, COL1A1, and COL2A1 in postmenopausal women. Arthritis Rheum 42:1946–1950. doi:10.1002/1529-0131(199811)41:11<1946:AID-ART8>3.0.CO;2-Z

    Article  Google Scholar 

  13. Meulenbelt I, Bijkerk C, Wildt De, Miedema HS, Breedveld FC, Pols HAP, Hofman A, Van Duijn CM, Slagboom PE (1999) Haplotype analysis of three polymorphisms of the COL2A1 gene and associations with generalised radiological osteoarthritis. Ann Hum Genet 63:393–400. doi:10.1046/j.1469-1809.1999.6350393.x

    Article  CAS  PubMed  Google Scholar 

  14. Uitterlinden AG, Burger H, van Duijn CM, Huang Q, Hofman A, Brikenhäger JC, van Leuwen JPTM, Pols HAP (2000) Adjacent genes, for COL2A1 and the vitamin D receptor, are associated with separate features of radiographic osteoarthritis of the knee. Arthritis Rheum 43:1456–1464. doi:10.1002/1529-0131(200007)43:7<1456:AID-ANR7>3.0.CO;2-M

    Article  CAS  PubMed  Google Scholar 

  15. Granchi D, Stea S, Sudanese A, Toni A, Baldini N, Giunti A (2002) Association of two gene polymorphisms with osteoarthritis secondary to hip dysplasia. Clin Orthop Relat Res 403:108–117. doi:10.1097/00003086-200210000-00018

    Article  PubMed  Google Scholar 

  16. Valdes AM, Loughlin J, Van Oene M, Chapman K, Surdulescu GL, Doherty M, Spector T (2007) Sex and ethnic differences in the association of ASPN, CALM1, COL2A1, COMP, and FRZB with genetic susceptibility to osteoarthritis of the knee. Arthritis Rheum 56:137–146. doi:10.1002/art.22301

    Article  CAS  PubMed  Google Scholar 

  17. Kellgren JH, Lawrence JS (1957) Radiological assessment of osteo-arthrosis. Ann Rheum Dis 16:494–502. doi:10.1136/ard.16.4.494

    Article  CAS  PubMed  Google Scholar 

  18. Prockop DJ (1985) Mutations in collagen genes. Consequences for rare and common diseases. J Clin Invest 75:783–787. doi:10.1172/JCI111773

    Article  CAS  PubMed  Google Scholar 

  19. Baralle D, Baralle M (2005) Splicing in action: assessing disease causing sequence changes. J Med Genet 42:737–748. doi:10.1136/jmg.2004.029538

    Article  CAS  PubMed  Google Scholar 

  20. Wessagowita V, Nallab VK, Roganb PK, McGrath JA (2005) Normal and abnormal mechanisms of gene splicing and relevance to inherited skin diseases. J Dermatol Sci 40:73–84. doi:10.1016/j.jdermsci.2005.05.006

    Article  Google Scholar 

  21. Bahadori M (2008) New advances in RNAs. Arch Iran Med 11:435–443

    CAS  PubMed  Google Scholar 

  22. Nelson F, Dahlberg L, Laverty S, Reiner A, Pidoux I, Ionescu M, Fraser GL, Brooks E, Tanzer M, Rosenberg LC, Dieppe P, Poole A (1998) Evidence for altered synthesis of type II collagen in patients with osteoarthritis. J Clin Invest 102:2115–2125. doi:10.1172/JCI4853

    Article  CAS  PubMed  Google Scholar 

  23. Jones SW, Watkins G, LeGood N, Roberts S, Murphy CL, Brockbank SM, Needham MR, Read SJ, Newham P (2008) The identification of differentially expressed microRNA in osteoarthritic tissue that modulate the production of TNF-α and MMP13. Osteoarthr Cartil 17:464–472. doi:10.1016/j.joca.2008.09.012

    Article  PubMed  Google Scholar 

  24. Coggon D, Reading I, Croft P, McLaren M, Barrett D, Cooper C (2001) Knee osteoarthritis and obesity. Int J Obes Relat Metab Disord 25:622–627. doi:10.1038/sj.ijo.0801585

    Article  CAS  PubMed  Google Scholar 

  25. Olaiz-Fernández G, Rivera-Dommarco J, Shamah-Levy T, Rojas R, Villalpando-Hernández S, Hernández-Avila M, Sepúlveda-Amor J (2006) Encuesta Nacional de Salud y Nutrición 2006. Instituto Nacional de Salud Pública. Cuernavaca, México

    Google Scholar 

Download references

Acknowledgments

This work was supported by a grant from the Consejo Nacional de Ciencia y Tecnología (CONACyT), México.

Conflict of interest

The authors declare that they have no conflict of interest.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Antonio Miranda-Duarte.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Gálvez-Rosas, A., González-Huerta, C., Borgonio-Cuadra, V.M. et al. A COL2A1 gene polymorphism is related with advanced stages of osteoarthritis of the knee in Mexican Mestizo population. Rheumatol Int 30, 1035–1039 (2010). https://doi.org/10.1007/s00296-009-1091-4

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00296-009-1091-4

Keywords

Navigation