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Association of Estrogen Receptor α and Vitamin D Receptor Gene Polymorphisms with Bone Mineral Density in Chinese Males

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Abstract

Osteoporosis is a common health problem not only in females but also in males, however, studies of osteoporosis in males are relatively rare compared to those in females. This is especially true in genetics studies. We evaluated the effects of PvuII and XbaI polymorphisms in the estrogen receptor α (ER-α) gene and ApaI polymorphism in the vitamin D receptor (VDR) gene on BMD variation in a random sample of 352 unrelated males from 401 Chinese nuclear families. BMD was measured at the lumbar spine (L1–L4) and hip (femoral neck, trochanter, intertrochanteric region). Raw BMD values were adjusted by age, age2, height, and weight as covariates. We found no significant results for the 3 individual markers on BMD variation, however, ER-α haplotype analyses yielded some interesting results. Carriers of haplotype pX had a 4.98% lower BMD at the trochanter (P = 0.02) and 3.55% lower BMD at the lumbar spine (P = 0.09) than non-carriers. PX subjects had a 3.42% higher BMD at the trochanter and 3.26% higher BMD at the lumbar spine than others (P = 0.07 and P = 0.10, respectively). Such results were highly comparable with the significant or nearly significant interactions between ER-PvuII and ER-XbaI on BMD values at the trochanter (P = 0.03) and spine (P = 0.11). No significant results were observed for the interactions between ER-PvuII and VDR-ApaI, between ER-XbaI and VDR-ApaI, and between any of ER-α haplotypes and VDR-ApaI locus. Our results suggest that the ER-α haplotypes, not individual markers, may be associated with BMD variation at some skeletal sites in our Chinese male samples.

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Acknowledgements

This study was partially supported by an Honorary Specially-Invited Professor Start-up Fund from Hunan Province (25000612), an Outstanding Young Scientist Grant from National Science Foundation of China (NSFC) (30025025), a general (30170504) and a key project grant (3023021) from NSFC, a Seed Fund from the Ministry of Education of China (25000106), a key project grant from the Ministry of Education of China, and a grant from Huo Ying-Dong Education Foundation. The investigators were partially supported by grants from Health Future Foundation of the USA, grants from the National Institute of Health (K01 AR02170-01, R01 GM60402-01 A1), grants from the State of Nebraska Cancer and Smoking-Related Disease Research Program (LB595) and the State of Nebraska Tobacco Settlement Fund (LB692), and a US Department of Energy grant (DE-FG03-00ER63000/A00). We thank Ms. Yuejuan Qin and Ms. Qi Zhou for the subject recruitment and BMD measurements. Ms. Qiren Huang coordinated sample recruitment.

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Authors and Affiliations

  1. Laboratory of Molecular and Statistical Genetics, College of Life Sciences, Hunan Normal University, Changsha, Hunan 410081, P. R. China

    J. R. Long & H. W. Deng

  2. Osteoporosis Research Center and Department of Biomedical Sciences, Creighton University Medical Center, 601 N. 30th St., Suite 6787, Omaha, NE 68131, USA

    J. R. Long, Y. Y. Zhang, P. Y. Liu, Y. J. Liu, H. Shen, V. Dvornyk, L. J. Zhao & H. W. Deng

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  1. J. R. Long
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Correspondence to H. W. Deng.

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Long, J., Zhang, Y., Liu, P. et al. Association of Estrogen Receptor α and Vitamin D Receptor Gene Polymorphisms with Bone Mineral Density in Chinese Males . Calcif Tissue Int 74, 270–276 (2004). https://doi.org/10.1007/s00223-003-0087-4

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