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Association between estrogen receptor-β dinucleotide repeat polymorphism and incidence of femoral fracture

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Journal of Bone and Mineral Metabolism Aims and scope Submit manuscript

Abstract

Estrogens are thought to play an important role in bone metabolism through estrogen receptors (ER). Dinucleotide (cytosine–adenine, CA) repeat polymorphism in the human ER-β gene (ESR2) has been reported to be associated with bone mineral density. We aimed to further elucidate the importance of this polymorphism in the pathogenesis of osteoporosis by examining its association with the incidence of femoral fracture. Deoxyribonucleic acids extracted from the renal cortex of 1489 consecutive Japanese autopsies (799 male, mean age 79 years, 690 female, mean age 82 years) with complete clinical/pathological data were enrolled in the study. ESR2 CA repeat polymorphism was determined by polymerase chain reaction using fluorescein-labeled primers. The presence or absence of femoral fracture during each subject’s lifetime was determined by thorough examination of the clinical record. Incidence of femoral fracture in subjects bearing at least one allele of 20 CA repeats (4/132, 3.0 %) was significantly lower than in those without this allele (127/1357, 9.4 %, P = 0.0098). After adjustments for age and sex, logistic regression analysis revealed that having no allele of 20 CA repeats was an independent risk factor of femoral fracture [adjusted odds ratio (OR) 3.875, 95 % confidence interval (CI) 1.392–10.788, P = 0.0095], which was emphasized among women (adjusted OR 6.360, 95 % CI 1.520–26.618, P = 0.0133). Japanese subjects, especially women, bearing at least one allele of 20 CA repeats in the ESR2 may have a lower risk of femoral fracture than those without it, suggesting this polymorphism plays a role in bone metabolism.

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Acknowledgments

This work was supported by a Grant-in-Aid for Scientific Research (No. 19590376) from the Japan Society for the Promotion of Science and a Grant (No. 09042037) from the Leading Project for Personalized Medicine of the Ministry of Education, Culture, Sports, Science and Technology.

Conflict of interest

All authors have no conflicts of interest.

Author information

Authors and Affiliations

  1. Research Team for Geriatric Pathology, Tokyo Metropolitan Institute of Gerontology, 35-2 Sakaecho, Itabashi-ku, Tokyo, 173-0015, Japan

    Naoko Honma & Kaiyo Takubo

  2. Department of Internal Medicine, Tokyo Metropolitan Geriatric Hospital, 35-2 Sakaecho, Itabashi-ku, Tokyo, 173-0015, Japan

    Seijiro Mori, Heying Zhou & Hideki Ito

  3. Department of Molecular Epidemiology, Medical Research Institute, Tokyo Medical and Dental University, 2-3-10 Kanda-surugadai, Chiyoda-ku, Tokyo, 101-0062, Japan

    Shinobu Ikeda & Masaaki Muramatsu

  4. Department of Medical Informatics, Center for Information, Jichi Medical University, 3311-1 Yakushiji, Shimotsuke, Tochigi, 329-0498, Japan

    Makiko Naka Mieno

  5. The National Surgical Adjuvant Breast and Bowel Project Operations and Biostatistics Center, 1307 Federal Street, Suite 303, Pittsburgh, PA, 15212, USA

    Noriko Tanaka

  6. Department of Pathology, Tokyo Metropolitan Geriatric Hospital, 35-2 Sakaecho, Itabashi-ku, Tokyo, 173-0015, Japan

    Tomio Arai & Motoji Sawabe

Authors
  1. Naoko Honma
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  2. Seijiro Mori
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  3. Heying Zhou
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  7. Kaiyo Takubo
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  8. Tomio Arai
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  10. Masaaki Muramatsu
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  11. Hideki Ito
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Corresponding author

Correspondence to Naoko Honma.

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Honma, N., Mori, S., Zhou, H. et al. Association between estrogen receptor-β dinucleotide repeat polymorphism and incidence of femoral fracture. J Bone Miner Metab 31, 96–101 (2013). https://doi.org/10.1007/s00774-012-0383-z

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  • DOI: https://doi.org/10.1007/s00774-012-0383-z

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