Analysis of OPG Gene Polymorphism T245G (rs3134069) in Slovak Postmenopausal Women
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.
[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.
[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.
@article{"International Journal of Medical, Medicine and Health Sciences:68042", author = "I. Boroňová and J. Bernasovská and J. Kľoc and Z. Tomková and E. Petrejčíková and S. Mačeková and J. Poráčová and M. M. Blaščáková", title = "Analysis of OPG Gene Polymorphism T245G (rs3134069) in Slovak Postmenopausal Women", 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.", volume = "8", number = "9", pages = "618-4", }
