Is GDF5 gene promoter polymorphism +104T/C associated with osteoarthritis in the Eastern of Turkey population?

Y. Tülüce; ć°. H. Yildirim; H. í–zkol; L. EdiÌ‡z; V. Delen

doi:10.14715/cmb/2017.63.8.14

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Vol. 63 No. 8: Issue 8

Issue Published : September 4, 2017

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Is GDF5 gene promoter polymorphism +104T/C associated with osteoarthritis in the Eastern of Turkey population?

https://doi.org/10.14715/cmb/2017.63.8.14

Y. Tülüce

Faculty of Medicine, Department of Medical Biology, Yuzuncu Yil University, Van, Turkey

ć°. H. Yildirim

Faculty of Veterinary Medicine, Department of Genetics, Dicle University, Diyarbakir, Turkey

H. í–zkol

Faculty of Medicine, Department of Medical Biology, Yuzuncu Yil University, Van, Turkey

L. EdiÌ‡z

Faculty of Medicine, Department of Physical Medicine and Rehabilitation, Yuzuncu Yil University, Van, Turkey

V. Delen

Faculty of Medicine, Department of Physical Medicine and Rehabilitation, Yuzuncu Yil University, Van, Turkey

Corresponding Author(s) : Y. Tülüce

ytuluce@yyu.edu.tr

Cellular and Molecular Biology, Vol. 63 No. 8: Issue 8
Article Published : August 30, 2017

Abstract

Osteoarthritis (OA) is the most common form of arthritis. Genetic factors have been shown to play important roles in the etiology of OA. The gene growth differentiation factor 5 (GDF5) has been implicated in skeletal development and joint morphogenesis in human and mice. A functional single nucleotide polymorphism (SNP) +104T/C in the 5'-UTR of GDF5 (rs143383) was reported to be associated with osteoarthritis susceptibility in Han Chinese and Japanese populations. Our objective was to assess whether this SNP was also associated with OA in the Eastern Turkey population.A total of 172 cases including 95 patients with idiopathic OA and 77 control cases were recruited into the study. DNA samples were extracted from peripheral blood lymphocytes of all cases by using salting out method. The +104T/C polymorphism was genotyped by PCR-RFLP method. In terms of genotype comparison there wasn't any correlation between patient and control groups. Frequency of C allele was found to be higher in-patient group than control group and statistical analysis showed a poor correlation in allele frequencies of the +104T/C SNP of GDF5 gene between cases and controls (p<0.05). Significant correlation between GDF5 and OA has been reported in Asian population, especially T alleles were found in higher frequencies and related to OA. Our study did not confirm this association and also in term of T allele. Interestingly, we found higher frequency of C allele in patient group than control group and our results are compatible with the study carried out in Greek population.

Keywords

Osteoarthritis GDF5 SNP Polymorphism PCR-RFLP.

Tülüce, Y., Yildirim, ć°. H., í–zkol, H., EdiÌ‡z, L., & Delen, V. (2017). Is GDF5 gene promoter polymorphism +104T/C associated with osteoarthritis in the Eastern of Turkey population?. Cellular and Molecular Biology, 63(8), 64–66. https://doi.org/10.14715/cmb/2017.63.8.14

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References

(1) Mahajan A, Verma S, Tandon V. Osteorthritis. JAPI 2005; 5: 634-641.
(2) Valdes AM, Spector TD. The contribution of genes to osteoarthritis. Rheum Dis Clin N Am 2008; 34: 581-603.
(3) Ishiguro N, Kojima T, Poole R. Mechanism of cartilage destruction in osteoarthritis, Nagoya J Med Sci 2002; 65:73-84.
(4) Tesche F, Miosge N. New aspects of the pathogenesis of osteoarthritis: thr role of fibroblast-like chondrocytes in late stages of the disease. Histol Histopathol 2006; 20: 329-337.
(5) Vincenti MP, Clark IM, Brinckerhoff CE. Using inhibitors of metalloproteinases to treat arthritis. Easier said than done? Arthritis Rheum 1994; 37: 1115-1126.
(6) Enochson L, Stenbberg J, Brittberg M, Lindahl A. GDF5 reduces MMP13 expression in human chondrocytes via DKK1 mediated canonical Wnt signaling inhibition. Osteoarth Cartilage 2014; 22: 566-577.
(7) Smith AJ, Keen LJ, Billingham MJ, Perry MJ, Elson CJ, Kirwan JR, Sims JE, Doherty M, Spector TD, Bidwell JL. Extended haplotypes and linkage disequilibrium in the IL1R1-IL1A-IL1B-IL1RN gene cluster: association with knee osteoarthritis. Genes Immun 2004; 5: 451-460.
(8) Murphy MK, Huey DJ, Hu JC, Athanasiou KA. TGF-Î²1, GDF-5, and BMP-2 stimulation induces chondrogenesis in expanded human articular chondrocytes and marrow-derived stromal cells. Stem Cells 2015; 33(3): 762-773.
(9) Mabuchi A, Ikeda T, Fukuda A, Koshizuka Y, Hiraoka H, Miyoshi K, Haga N, Kawaguchi H, Kawakami A, Yamamoto S, Takatori Y, Nakamura K, Ikegawa S. Identification of sequence polymorphisms of the COMP (cartilage oligomeric matrix protein) gene and association study in osteoarthrosis of the knee and hip joints. J Hum Genet 2001; 46: 456-462.
(10) Miyamoto Y, Mabuchi A, Shi D, Kubo T, Takatori Y, Saito S, Fujioka M, Sudo A, Uchida A, Yamamoto S, Ozaki K, Takigawa M, Tanaka T, Nakamura Y, Jiang Q, Ikegawa S. A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis. Nat Genet 2007; 39(4): 529-533.
(11) Southam L, Rodriguez-Lopez J, Wilkins JM Pombo-Suarez M, Snelling S, Gomez-Reino JJ, Chapman K, Gonzalez A, Loughlin J. An SNP in the 5'-UTR of GDF5 is associated with osteoarthritis susceptibility in Europeans and with in vivo differences in allelic expression in articular cartilage. Hum Mol Genet 2007; 16: 2226-2232.
(12) Hatakeyama Y, Hatakeyama J, Maruya Y, Oka K, Tsuruga E, Inai T, Sawa Y. Growth differentiation factor 5 (GDF5) induces matrix metalloproteinase 2 (MMP-2) expression in periodontal ligament cells and modulates MMP-2 and MMP-13 activity in osteoblasts. Bone and Tissue Regeneration Insigh, 2011; 4:1-10.
(13) 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):136-140.
(14) Ratnayake M, Plöger F, Santibanez-Koref M, Loughlin J. Human chondrocytes respond discordantly to the protein encoded by the osteoarthritis susceptibility gene GDF5. PLoS One 2014; 21: 9(1): e86590.
(15) Edwards CJ, Francis-West PH. Bone morphogenetic proteins in the development and healing of synovial joints. Semin Arthritis Rheum 2001; 31: 33-42.
(16) Luyten FP. Cartilage-derived morphogenetic protein-1. Int J Biochem Cell Biol 1997; 29(11): 1241-1244.
(17) Egli RJ, Southam L, Wilkins JM, Lorenzen I, Pombo-Suarez M, Gonzalez A, Carr A, Chapman K, Loughlin J. Functional analysis of the osteoarthritis susceptibility-associated GDF5 regulatory polymorphism. Arthritis Rheum 2009; 60(7): 2055-2064.
(18) Tawonsawatruk T, Changthong T, Pingsuthiwong S, Trachoo O, Sura T, Wajanavisit W. A genetic association study between growth differentiation factor 5 (GDF 5) polymorphism and knee osteoarthritis in Thai population. J Orthop Surg Res 2011; 21(6):47.
(19) Mishra A, Sanghi D, Sharma AC, Raj S, Maurya SS, Avasthi S, Singh A, Parmar D. Srivastava RN. Association of polymorphism in growth and differentiation factor 5 gene with osteoarthritis knee. Am J Biochem Biotechnol 2013; 9(1): 1-7.
(20) Shin MH, Lee SJ, Kee SJ, Song SK, Kweon SS, Park DJ, Park YW, Lee SS, Kim TJ. Genetic association analysis of GDF5 and ADAM12 for knee osteoarthritis. Joint Bone Spine 2012; 79(5): 488-491
(21) Cao Z, Lee HS, Song JH, Yoon JW, Park YK, Nam SW, Lee JY, Park WS. Growth Differentiation Factor 5 (GDF5) Core Promoter Polymorphism Is not Associated with Susceptibility to Osteoarthritis of the Knee in the Korean Population. The Korean J Pathology 2010; 44: 404-409
(22) 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 Musculoskeletal Disorders 2014; 15: 404.

References

(1) Mahajan A, Verma S, Tandon V. Osteorthritis. JAPI 2005; 5: 634-641.

(2) Valdes AM, Spector TD. The contribution of genes to osteoarthritis. Rheum Dis Clin N Am 2008; 34: 581-603.

(3) Ishiguro N, Kojima T, Poole R. Mechanism of cartilage destruction in osteoarthritis, Nagoya J Med Sci 2002; 65:73-84.

(4) Tesche F, Miosge N. New aspects of the pathogenesis of osteoarthritis: thr role of fibroblast-like chondrocytes in late stages of the disease. Histol Histopathol 2006; 20: 329-337.

(5) Vincenti MP, Clark IM, Brinckerhoff CE. Using inhibitors of metalloproteinases to treat arthritis. Easier said than done? Arthritis Rheum 1994; 37: 1115-1126.

(6) Enochson L, Stenbberg J, Brittberg M, Lindahl A. GDF5 reduces MMP13 expression in human chondrocytes via DKK1 mediated canonical Wnt signaling inhibition. Osteoarth Cartilage 2014; 22: 566-577.

(7) Smith AJ, Keen LJ, Billingham MJ, Perry MJ, Elson CJ, Kirwan JR, Sims JE, Doherty M, Spector TD, Bidwell JL. Extended haplotypes and linkage disequilibrium in the IL1R1-IL1A-IL1B-IL1RN gene cluster: association with knee osteoarthritis. Genes Immun 2004; 5: 451-460.

(8) Murphy MK, Huey DJ, Hu JC, Athanasiou KA. TGF-Î²1, GDF-5, and BMP-2 stimulation induces chondrogenesis in expanded human articular chondrocytes and marrow-derived stromal cells. Stem Cells 2015; 33(3): 762-773.

(9) Mabuchi A, Ikeda T, Fukuda A, Koshizuka Y, Hiraoka H, Miyoshi K, Haga N, Kawaguchi H, Kawakami A, Yamamoto S, Takatori Y, Nakamura K, Ikegawa S. Identification of sequence polymorphisms of the COMP (cartilage oligomeric matrix protein) gene and association study in osteoarthrosis of the knee and hip joints. J Hum Genet 2001; 46: 456-462.

(10) Miyamoto Y, Mabuchi A, Shi D, Kubo T, Takatori Y, Saito S, Fujioka M, Sudo A, Uchida A, Yamamoto S, Ozaki K, Takigawa M, Tanaka T, Nakamura Y, Jiang Q, Ikegawa S. A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis. Nat Genet 2007; 39(4): 529-533.

(11) Southam L, Rodriguez-Lopez J, Wilkins JM Pombo-Suarez M, Snelling S, Gomez-Reino JJ, Chapman K, Gonzalez A, Loughlin J. An SNP in the 5'-UTR of GDF5 is associated with osteoarthritis susceptibility in Europeans and with in vivo differences in allelic expression in articular cartilage. Hum Mol Genet 2007; 16: 2226-2232.

(12) Hatakeyama Y, Hatakeyama J, Maruya Y, Oka K, Tsuruga E, Inai T, Sawa Y. Growth differentiation factor 5 (GDF5) induces matrix metalloproteinase 2 (MMP-2) expression in periodontal ligament cells and modulates MMP-2 and MMP-13 activity in osteoblasts. Bone and Tissue Regeneration Insigh, 2011; 4:1-10.

(13) 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):136-140.

(14) Ratnayake M, Plöger F, Santibanez-Koref M, Loughlin J. Human chondrocytes respond discordantly to the protein encoded by the osteoarthritis susceptibility gene GDF5. PLoS One 2014; 21: 9(1): e86590.

(15) Edwards CJ, Francis-West PH. Bone morphogenetic proteins in the development and healing of synovial joints. Semin Arthritis Rheum 2001; 31: 33-42.

(16) Luyten FP. Cartilage-derived morphogenetic protein-1. Int J Biochem Cell Biol 1997; 29(11): 1241-1244.

(17) Egli RJ, Southam L, Wilkins JM, Lorenzen I, Pombo-Suarez M, Gonzalez A, Carr A, Chapman K, Loughlin J. Functional analysis of the osteoarthritis susceptibility-associated GDF5 regulatory polymorphism. Arthritis Rheum 2009; 60(7): 2055-2064.

(18) Tawonsawatruk T, Changthong T, Pingsuthiwong S, Trachoo O, Sura T, Wajanavisit W. A genetic association study between growth differentiation factor 5 (GDF 5) polymorphism and knee osteoarthritis in Thai population. J Orthop Surg Res 2011; 21(6):47.

(19) Mishra A, Sanghi D, Sharma AC, Raj S, Maurya SS, Avasthi S, Singh A, Parmar D. Srivastava RN. Association of polymorphism in growth and differentiation factor 5 gene with osteoarthritis knee. Am J Biochem Biotechnol 2013; 9(1): 1-7.

(20) Shin MH, Lee SJ, Kee SJ, Song SK, Kweon SS, Park DJ, Park YW, Lee SS, Kim TJ. Genetic association analysis of GDF5 and ADAM12 for knee osteoarthritis. Joint Bone Spine 2012; 79(5): 488-491

(21) Cao Z, Lee HS, Song JH, Yoon JW, Park YK, Nam SW, Lee JY, Park WS. Growth Differentiation Factor 5 (GDF5) Core Promoter Polymorphism Is not Associated with Susceptibility to Osteoarthritis of the Knee in the Korean Population. The Korean J Pathology 2010; 44: 404-409

(22) 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 Musculoskeletal Disorders 2014; 15: 404.