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Osteoporosis International
Published in: Osteoporosis International 3/2015

Open Access 01-03-2015 | Original Article

Polymorphism of vitamin D3 receptor and its relation to mineral bone density in perimenopausal women

Authors: D. Boroń, A. Kamiński, D. Kotrych, A. Bogacz, I. Uzar, P. M. Mrozikiewicz, B. Czerny

Published in: Osteoporosis International | Issue 3/2015

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Abstract

Summary

Postmenopausal osteoporosis is the most common metabolic bone disease with important genetic factors. We evaluated the frequency of polymorphism 283G/A of the vitamin D3 VDR gene receptor. The study included 800 women at the postmenopausal (505) and reproductive (295) age. Statistically significant changes, depending on the genotype, were shown.

Introduction

Postmenopausal osteoporosis is the most common metabolic bone disease of strong genetic origin with population variability determined by the interaction of genetic and environmental factors. Recognition of different genetic variants underlying development of osteoporosis would make it possible to administer individual symptomatic treatment as well as early prophylactics of osteoporosis.

Methods

The aim of the study was to evaluate the frequency of polymorphism 283G/A of the vitamin D3 VDR gene receptor and assessment of its relations with the clinical parameters of osseous turnover and degree of postmenopausal osteoporosis.
The study included 800 women at the postmenopausal (505) and reproductive (295) age throughout the Wielkopolska region in Poland. The postmenopausal group included women with osteoporosis and osteopenia and the healthy ones. Women at the reproductive age were healthy. Frequency of the tested gene polymorphism was evaluated in the group where bone mineral density (BMD) was marked and in the control group.

Results

The obtained test results pointed to correlation of polymorphism VDR 283G/A with the BMD scores for the lumbar vertebrae in women with osteopenia and osteoporosis, therefore the ones at risk of fractures. Vitamin D receptor (VDR) polymorphism correlated with reduced BMD values.

Conclusions

Polymorphism 283G/A of the vitamin D3 receptor gene has been proved to be the genetic factor of postmenopausal osteoporosis. The polymorphism mentioned above has been proved to be a factor of mineral bone density changes of women.
Literature
1.
Hewison M, Burke F, Evans KN, Lammas DA, Sansom DM, Lin P et al (2007) Extrarenal 25-hydroxyvitamin D3-1α-hydroxylase in human health and disease. J Steroid Biochem Mol Biol 103:316–321CrossRefPubMed
2.
Czech-Kowalska J, Pludowski P, Dobrzanska A, Kryskiewicz E, Karczmarewicz E, Gruszfeld D, Pleskaczynska A, Golkowska M (2012) Impact of vitamin D supplementation on markers of bone mineral metabolism in term infants. Bone 51:781–786CrossRefPubMed
3.
Holick MF (2004) Sunlight and vitamin D for bone health and prevention of autoimmune diseases, cancers, and cardiovascular disease. Am J Clin Nutr 80:1678–1688
4.
Lin R, White JH (2008) The pleiotropic actions of vitamin D. BioEssays 26:21–28CrossRef
5.
Christakos S, Dhawan P, Liu Y, Peng X, Porta A (2003) New insights into the mechanisms of vitamin D action. J Cell Biochem 88:695–705CrossRefPubMed
6.
Vogel A, Strassburg C, Manns M (2002) Genetic association of vitamin D receptor polymorphisms with primary biliary cirhosis and autoimmune hepatitis. Hepatology 35:126–131CrossRefPubMed
7.
McKay JD, McCullough ML, Ziegler RG, Kraft P, Saltzman BS, Riboli E et al (2009) Vitamin D receptor polymorphisms and breast cancer risk: results from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium. Cancer Epidemiol Biomarkers Prev 18:297–305CrossRefPubMed
8.
Marcinowska-Suchowierska E, Walicka M, Tałałaj M, Horst-Sikorska W, Ignaszak-Szczepaniak M, Sewerynek E (2010) Vitamin D supplementation in adults—guidelines. Endocrinol Pol 61:723–729
9.
10.
Gordon CM, DePeter KC, Feldman HA, Grace E, Emans SJ (2004) Prevalence of vitamin D deficiency among healthy adolescents. Arch Pediatr Adolesc Med 158:531–537CrossRefPubMed
11.
Holick MF (2006) High prevalence of vitamin D inadequacy and implications for health. Mayo Clin Proc 81:353–373CrossRefPubMed
12.
Lips P, Hosking D, Lippuner K, Norgquist JM, Wehren L, Maalouf G et al (2006) The prevalence of vitamin D inadequacy amongst women with osteoporosis: an international epidemiological investigation. J Intern Med 260:245–254CrossRefPubMed
13.
14.
Giovannucci E (2008) Vitamin D status and cancer incidence and mortality. Adv Exp Med Biol 624:31–42CrossRefPubMed
15.
Springer JE, Cole DE, Rubin LA, Cauch-Dudek K, Harewood L, Evrovski J (2000) Vitamin-D receptor genotypes as independent genetic predictors of decreased bone mineral density in primary biliary cirrhosis. Gastroenterology 118:145–151CrossRefPubMed
16.
Wuster C (2000) On the search for osteoporosis genes: how many more do we need? Eur J Clin Invest 30:563–565CrossRefPubMed
17.
Nguyen TV, Blangero J, Eisman JA (2000) Genetic and epidemiological approaches to the search for osteoporosis genes. J Bone Miner Res 15:392–401CrossRefPubMed
18.
Horst-Sikorska W, Dytfeld J, Wawrzyniak A, Marcinkowska M, Michalak M, Franek E et al (2013) Vitamin D receptor gene polymorphisms, bone mineral density and fractures in postmenopausal women with osteoporosis. Mol Biol Rep 40:383–390CrossRefPubMedCentralPubMed
19.
Lambrinoudaki I, Kaparos G, Armeni E, Alexandrou A, Damaskos C, Logothetis E et al (2011) BsmI vitamin D receptor’s polymorphism and bone mineral density in men and premenopausal women on long-term antiepileptic therapy. Eur J Neurol 18:93–98CrossRefPubMed
20.
Wang CL, Tang XY, Chen WQ, Su YX, Zhang CX, Chen YM (2007) Association of estrogen receptor α gene polymorphisms with bone mineral density in Chinese women: a meta-analysis. Osteoporos Int 18:295–305CrossRefPubMed
21.
Uitterlinden AG, Weel AE, Burger H, Yue Fang Y, Van Duijn CM, Hofman A et al (2001) Interaction between the vitamin D receptor gene and collagen type Iα1 gene in susceptibility for fracture. J Bone Miner Res 16:379–385CrossRefPubMed
22.
Chen HY, Chen WC, Hsu CD, Tsai FJ, Tsai CH (2002) Relation of vitamin D receptor FokI start codon polymorphism to bone mineral density and occurrence of osteoporosis in postmenopausal women in Taiwan. Acta Obstet Gynecol Scand 81:93–98PubMed
23.
Langdahl BL, Gravhold CH, Brixen K, Eriksen EF (2000) Polymorphism in the vitamin D receptor gene and bone mass, bone turnover and osteoporotic fractures. Eur J Clin Invest 30:608–617CrossRefPubMed
24.
Sainz J, Van Tornout JM, Lord ML, Sayre J, Roe TF, Gilsanz V (1997) Vitamin D receptor gene polymorphisms and bone density in prepubertal American girls of Mexican descent. N Engl J Med 337:77–82CrossRefPubMed
25.
Hustmyer FG, DeLuca HF, Peacock M (1993) ApaI, BsmI, EcoRV and TaqI polymorphisms at the human vitamin D receptor gene locus in Caucasians, blacks and Asians. Hum Mol Genet 2:487CrossRefPubMed
26.
Yamada Y, Ando F, Niino N, Shimokata H (2003) Association of polymorphism of interleukin-6, osteocalcin, and vitamin receptor genes, alone or in combination, with bone mineral density in community-dwelling Japanese women and men. J Clin Endocrinol Metab 88:3372–3378CrossRefPubMed
27.
Garnero P, Munoz F, Borel O, Sornay-Rendu E, Delmas PD (2005) Vitamin D receptor gene polymorphisms are associated with the risk of fractures in postmenopausal women, independently of bone mineral density. J Clin Endocrinol Metab 90:4829–4835CrossRefPubMed
28.
Moffett SP, Zmuda JM, Cauley JA, Ensrud KE, Hillier TA, Hochberg MC et al (2007) Association of the VDR translation start site polymorphism and fracture risk in older women. J Bone Miner Res 22:730–736CrossRefPubMed
29.
Langdahl BL, Carstens M, Stenkjaer L, Eriksen EF (2003) Polymorphisms in the transforming growth factor beta 1 gene and osteoporosis. Bone 32:297–310CrossRefPubMed
30.
Alvarez-Hernandez D, Navez M, Diaz-Lopez JB, Gomez C (2003) Influence of polymorphisms in VDR and COL1A1 genes on the risk of osteoporotic fractures in aged men. Kidney Int 85:14–18CrossRef
31.
Andersen R, Brot C, Cashman KD, Habros E, Charzewska J (2004) Hypovitaminosis D in Europe. Osteoporos Int 15:7–8
32.
Kurabayashi T, Matsushita H, Kato N, Nagata H (2004) Effect of vitamin D receptor and estrogen receptor gene polymorphism on the relationship between dietary calcium and bone mineral density in Japanese women. J Bone Miner Metab 22:139–147CrossRefPubMed
33.
Horst-Sikorska W, Wawrzyniak A, Celczyńska-Bajew L, Marcinkowska M, Dąbrowski S, Kalak R et al (2005) Polymorphism of VDR gene—the most effective molecular marker of osteoporotic bone fractures risk within postmenopausal women from Wielkopolska region of Poland. Pol J Endocrinol 3:233–239
34.
Gross C, Eccleshall TR, Malloy PJ, Villa ML, Marcus R, Feldman D (1996) The presence of a polymorphism at the translation initiation site of the vitamin D receptor gene is associated with low bone mineral density in postmenopausal Mexican-American women. J Bone Miner Res 11:1850–1855CrossRefPubMed
35.
Zajickova K, Zofkova I (2002) Vitamin D receptor gene polymorphisms, bone mineral density and bone turnover: FokI genotype is related to postmenopausal bone mass. Physiol Res 51:501–509PubMed
36.
Dvornyk V, Liu XH, Shen H, Lei SF, Zhao LJ, Huang QR et al (2003) Differentiation of Caucasians and Chinese at bone mass candidate genes: implication for ethnic difference of bone mass. Ann Hum Gen 67:216–227CrossRef
37.
Lei SF, Deng FY, Liu XH, Huang QR, Qin Y, Zhou Q et al (2003) Polymorphisms of four bone mineral density candidate genes in Chinese populations and comparison with other populations of different ethnicity. J Bone Miner Metab 21:34–42CrossRefPubMed
Metadata
Title
Polymorphism of vitamin D3 receptor and its relation to mineral bone density in perimenopausal women
Authors
D. Boroń
A. Kamiński
D. Kotrych
A. Bogacz
I. Uzar
P. M. Mrozikiewicz
B. Czerny
Publication date
01-03-2015
Publisher
Springer London
Published in
Osteoporosis International / Issue 3/2015
Print ISSN: 0937-941X
Electronic ISSN: 1433-2965
DOI
https://doi.org/10.1007/s00198-014-2947-3

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