Analysis of OPG Gene Polymorphism T245G (rs3134069) in Slovak Postmenopausal Women
Authors: I. Boroňová, J. Bernasovská, J. Kľoc, Z. Tomková, E. Petrejčíková, S. Mačeková, J. Poráčová, M. M. Blaščáková
Abstract:
Osteoporosis is a common multifactorial disease with a strong genetic component characterized by reduced bone mass and increased risk of fractures. Genetic factors play an important role in the pathogenesis of osteoporosis. The aim of our study was to identify the genotype and allele distribution of T245G polymorphism in OPG gene in Slovak postmenopausal women. A total of 200 unrelated Slovak postmenopausal women with diagnosed osteoporosis and 200 normal controls were genotyped for T245G (rs3134069) polymorphism of OPG gene. Genotyping was performed using the Custom Taqman®SNP Genotyping assays. Genotypes and alleles frequencies showed no significant differences (p=0.5551; p=0.6022). The results of the present study confirm the importance of T245G polymorphism in OPG gene in the pathogenesis of osteoporosis.
Keywords: OPG gene, osteoporosis, Real-time PCR, T245G polymorphism.
Digital Object Identifier (DOI): doi.org/10.5281/zenodo.1096231
Procedia APA BibTeX Chicago EndNote Harvard JSON MLA RIS XML ISO 690 PDF Downloads 2327References:
[1] B. Arko, J. Prezelj, R. Komel, A. Kocijancic, P. Hudler, J. Marc "Sequence variations in the osteoprotegerin gene promoter in patients with postmenopausal osteoporosis". In J Clin Endocrinol Metab 2002, 87(9): 4080–4084.
[2] H. Brandstrom, P. Gerdhem, F. Stiger et al. "Single nucleotide polymorphisms in the human gene for osteoprotegerin are not related to bone mineral density or fracture in elderly women". In Calcif Tissue Int 2003, 74(1):18–24.
[3] H.L. Jørgensen, P. Kusk, B. Madsen, M. Fenger, J.B. Lauritzen "Serum osteoprotegerin (OPG) and the A163G polymorphism in the OPG promoter region are related to peripheral measures of bone mass and fracture odds ratios". In J Bone Miner Metab 2004, 22(2): 132–138.
[4] B.L. Langdahl, M. Carstens, L.E. Stenkjaer, F. Eriksen "Polymorphisms in the osteoprotegerin gene are associated with osteoporotic fractures". In J Bone Miner Res 2002, 17(7): 1245-1255.
[5] CH. Ling-xia, M. Yi-de, L. Jie, W. Ya-nan, J. Rong, B. Hui, CH Lin "Association between T245G polymorphisms in the osteoprotegerin gene and bone mineral density in elderly individuals". In Journal of Clinical Rehabilitative Tissue Engineering Research 2011, 12(15), 11: 2069-2072.
[6] S. Mencej-Bedrač, J. Preželj, J. Marc "TNFRSF11B gene polymorphisms 1181G>C and T>G as well as haplotype CT influence bone mineral density in postmenopausal women". In Maturitas 2011, 69:263-267.
[7] S. Mencej-Bedrač, J. Prezelj, T. Kocjan et al. "The combinations of polymorphisms in vitamin D receptor, osteoprotegerin and tumor necrosis fator superfamily member 11 genes are associated with bone mineral density". In J Mol Endicronol 2009, 42(3):239-247.
[8] H. Ohmori, Y. Makita, M. Funamizu et al. "Linkage and association analyses of the osteoprotegerin gene locus with human osteoporosis". In J Hum Genet 2002, 47(4):400-406.
[9] S.H. Ralston, B. de Crombrugghe „Genetic regulation of bone mass and susceptibility to osteoporosis". In Genes Dev 2006, 20: 2492–2506.
[10] J.B. Richards, F. Rivadeneira, M. Inouye et al. "Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study". In Lancet 2008, 371(9623): 1505-1512.
[11] E.M. Stein, A. Kepley, M. Walker, T.L. Nickolas, K. Nishiyama, B. Zhou, X.S.Liu, D.J. McMahon, C. Zhang, S. Boutroy, F. Cosman, J. Nieves, X.E. Guo, E. Shane Skeletal structure in postmenopausal women with osteopenia and fractures is characterized by abnormal trabecular plates and cortical thinning. J Bone Miner Res 2014, 29(5): 1101-9.
[12] B.V. Styrkarsdottir, S. Halldorsson et al Multiple genetic loci for bone mineral density and fractures. In N Engl J Med 2008, 358:2355-2365.
[13] I. Takacs, Á. Lazáry, J.P. Kósa et al Allelic variations of RANKL/OPG signaling system are related to bone mineral density and in vivo gene expression. European Journal of Endocrinology 2010, 162(2):423-431.
[14] World Health Organisation "Assessment of fracture risk and its application to screening for postmenopausal osteoporosis: Report of a WHO Study Group", In World Health Organ Tech Rep Ser1994, 843: 1-129.
[15] Y. Yamada, F. Ando, N. Niino, H. Shimoka "Association of polymorphisms of the osteoprotegerin gene with bone mineral density in Japanese women but not men". In Mol Genet Metab 2003, 80(3):344- 349.
[16] K. Zajíčková, I. Žofková "Polymorfizmy v kandidátních genech pro osteoporózu a jejic hasociace nejen s kostním metabolismem". In Endokrinologie 2007, 2: 84-88.
[17] K. Zajíčková, A. Zemanová, M. Hill, I. Žofková "Is A163G Polymorphism in the osteoprotegerin gene associated with hell velocity of sound in postmenopausal women?" In Physiol Res 2008, 57(1): 153- 157.