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Osteoporosis International

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01-04-2011 | Original Article

Association of estrogen receptor alpha and collagen type I alpha 1 gene polymorphisms with bone mineral density in postmenopausal women

Authors: M. O. Erdogan, H. Yıldız, S. Artan, M. Solak, F. Taşcıoğlu, Ü. Dündar, B. Eser, E. Çolak

Published in: Osteoporosis International | Issue 4/2011

Abstract

Summary

In this study, ERα gene PvuII and XbaI polymorphisms and COL1A1 gene Sp1 polymorphisms in postmenopausal women were compared with lumbar vertebra and femoral neck BMD values. In conclusion, it was designated that PvuII polymorphism was effective on average lumbar vertebra BMD value in postmenopausal women of our study group.

Introduction

Bone mineral density (BMD), the major determinant of osteoporotic fracture risk, has a strong genetic component. Several candidate gene polymorphisms have been implicated in the regulation of this process. In this study, the relationship among BMD values of lumbar vertebra and femoral neck and ERα gene PvuII and XbaI polymorphisms and COL1A1 gene Sp1 polymorphism in 126 postmenopausal women (30 normal, 46 osteopenic, and 50 osteoporotic in terms of bone mineral density) was researched.

Methods

The ERα gene PvuII and XbaI genotypes were determined by polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP) whereas the COL1A1 gene Sp1 genotype was determined by real-time PCR. BMDs at the lumbar spine (vertebrae L1–L4) and hip (femur neck) were measured by dual-energy X-ray absorptiometry.

Results

According to our study results, the significant difference was found in women with normal, osteopenic, and osteoporotic bone mass in terms of ERα gene PvuII polymorphism “pp” genotype frequency. The “pp” genotype frequency was significantly lower in women with normal bone mass. Average lumbar vertebra BMD value of women with “PP” genotype was significantly higher than that with “pp” genotype. On the other hand, in the evaluations on ERα gene XbaI polymorphism and COL1A1 gene Sp1 polymorphism, it was noted that there was no difference in terms of average BMD values, genotype, and allele frequencies among groups.

Conclusion

In conclusion, it was designated that ERα gene PvuII polymorphism was effective on average lumbar vertebra BMD value in postmenopausal women of our study group.

Anonymous (1993) Consensus development conference: diagnosis prophylaxis and treatment of osteoporosis. Am J Med 94:646–650CrossRef

Seeman E, Hopper JL, Bach LA et al (1989) Reduced bone mass in daughters of women with osteoporosis. N Engl J Med 320:554–558PubMedCrossRef

Spector TD, Keen RW, Arden NK et al (1995) Influence of vitamin D receptor genotype on bone mineral density in postmenopausal women: a twin study in Britain. BMJ 310:1357–1360PubMed

Green S, Walter P, Kumar V, Krust A, Bornert JM, Argos P, Chambon P (1986) Human estrogen receptor cDNA: sequence, expression and homology to v-erbA. Nature 320:134–139PubMedCrossRef

Greene GL, Gilna P, Waterfield M et al (1986) Sequence and expression of human estrogen receptor complementary DNA. Science 231:1150–1154PubMedCrossRef

Gennari L, Merlotti D, De Paola V, Calabrò A, Becherini L, Martini G, Nuti R (2005) Estrogen receptor gene polymorphisms and the genetics of osteoporosis: a huge review. Am J Epidemiol 161:307–320PubMedCrossRef

Mitra S, Desai M, Khatkhatay MI (2006) Association of estrogen receptor a gene polymorphisms with bone mineral density in postmenopausal Indian women. Mol Genet and Metab 87:80–87CrossRef

Zhang YY, Long JR, Liu PY, Liu YJ, Shen H, Zhao LJ, Deng HW (2003) Estrogen receptor alpha and vitamin D receptor gene polymorphisms and bone mineral density: association study of healthy pre- and postmenopausal Chinese women. Biochem Biophys Res Commun 308:777–783PubMedCrossRef

Bagger YZ, Jorgensen HL, Heegaard AM, Bayer L, Hansen L, Hassager C (2000) No major effect of estrogen receptor gene polymorphisms on bone mineral density or bone loss in postmenopausal Danish women. Bone 26:111–116PubMedCrossRef

10.

Langdahl BL, Lokke E, Carstens MLL, Stenkjaer EF, Eriksen A (2000) TA repeat polymorphism in the estrogen receptor gene is associated with osteoporotic fractures but polymorphisms in the first exon and intron are not. J Bone Miner Res 15:2222–2230PubMedCrossRef

11.

Körkkö J, Ala-Kokko L, De Paepe A, Nuytinck L, Earley J, Prockop DJ (1998) Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations. Am J Hum Genet 62:98–110PubMedCrossRef

12.

Chu ML, Prockop DJ, In Royce PM, Steinmann B (eds) (1993) Connective tissue and its heritable disorders, molecular, genetic, and medical aspects. Wiley-Liss, New York, pp 149–165

13.

Tanakol R, Gökçe-Kutsal Y (eds) (2004) Fizyopatolojik Etmenler, Osteoporozda Kemik Kalitesi. Güneş Kitabevi, Ankara, pp 3–70

14.

Efstathiadou Z, Kranas V, Ioannidis JPA, Georgiou I, Tsatsoulis A (2001) The Sp1 COLIA1 gene polymorphism, and not vitamin D receptor or estrogen receptor gene polymorphisms, determines bone mineral density in postmenopausal Greek women. Osteoporos Int 12:326–331PubMedCrossRef

15.

Uitterlinden AG, Burger H, Huang Q et al (1998) Relation of alleles of the collagen type I alpha1 gene to bone density and the risk of osteoporotic fractures in postmenopausal women. N Engl J Med 338:1016–1021PubMedCrossRef

16.

Bandrés E, Pombo I, González-Huarriz M, Rebollo A, López G, García-Foncillas J (2005) Association between bone mineral density and polymorphisms of the VDR, ERα, COL1A1 and CTR genes in Spanish post-menopausal women. J Endocrinol Invest 28:312–321PubMed

17.

Heegaard A, Jorgensen HL, Vestergaard AW, Hassager C, Ralston SH (2000) Lack of influence of collagen type Iα1 Sp1 binding site polymorphism on the rate of bone loss in a cohort of postmenopausal Danish women followed for 18 years. Calcif Tissue Int 66:409–413PubMedCrossRef

18.

Kobayashi S, Inoue S, Hosoi T, Ouchi Y, Shiraki M, Orimo H (1996) Association of bone mineral density with polymorphism of the estrogen receptor gene. J Bone Miner Res 3:306–311

19.

Bustamante M, Nogués X, Enjuanes A, Elosua R, García-Giralt N, Pérez-Edo L, Cáceres E, Carreras R, Mellibovsky L, Balcells S, Díez-Pérez A, Grinberg D (2007) COL1A1, ESR1, VDR and TGFB1 polymorphisms and haplotypes in relation to BMD in Spanish postmenopausal women. Osteoporos Int 18:235–243PubMedCrossRef

20.

Kobayashi N, Fujino T, Shirogane T, Furuta I, Kobamatsu Y, Yaegashi M, Sakuragi N, Fujimoto S (2002) Estrogen receptor polymorphism as a genetic marker for bone loss, vertebral fractures and susceptibility to estrogen. Maturitas 41:193–201PubMedCrossRef

21.

Albagha OME, Mcguigan FEA, Reid DM, Ralston SH (2001) Estrogen receptor a gene polymorphisms and bone mineral density: haplotype analysis in women from the United Kingdom. J Bone Miner Res 16:128–134PubMedCrossRef

22.

Mann V, Hobson EE, Li B et al (2001) A COL1A1 Sp1 binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality. J Clin Invest 107:899–907PubMedCrossRef

23.

Hubacek JA, Weichetova M, Bohuslavova R, Skodova Z, Stepan JJ, Adamkova V (2006) No associations between genetic polymorphisms of TGFß, PaI-1, and COL1A1, and bone mineral density in Caucasian females. Endoc Reg 40:107–112

24.

Şahin AO (1999) Kadınlarda Postmenopozal Dönemdeki Kemik Mineral Yoğunluğıu İle Farklı Kollajen Tip I α 1 Genotipleri Arasındaki İlişki, Uzmanlık Tezi, Gazi Üniv., Tıp Fak., 94.

25.

Bernad M, Martinez ME, Escalona M, González ML, González C, Garcés MV, Del Campo MT, Martín Mola E, Maderò R, Carreñò L (2002) Polymorphism in the type I collagen (COLIA1) gene and risk of fractures in postmenopausal women. Bone 30:223–228PubMedCrossRef

26.

Zajickova K, Zofkova I, Hill M (2002) Is the Sp1 polymorphism in the COL1A1 gene a risk factor for postmenopausal osteoporosis? Arthritis and Rheum 46:2828–2829CrossRef

Title: Association of estrogen receptor alpha and collagen type I alpha 1 gene polymorphisms with bone mineral density in postmenopausal women
Authors: M. O. Erdogan
H. Yıldız
S. Artan
M. Solak
F. Taşcıoğlu
Ü. Dündar
B. Eser
E. Çolak
Publication date: 01-04-2011
Publisher: Springer-Verlag
Published in: Osteoporosis International / Issue 4/2011
Print ISSN: 0937-941X
Electronic ISSN: 1433-2965
DOI: https://doi.org/10.1007/s00198-010-1312-4

At a glance: The STEP trials

Springer Medicine

Association of estrogen receptor alpha and collagen type I alpha 1 gene polymorphisms with bone mineral density in postmenopausal women

Abstract

Summary

Introduction

Methods

Results

Conclusion

At a glance: The STEP trials

Springer Medicine

Abstract

Summary

Introduction

Methods

Results

Conclusion

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