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The VDR, COL1A1, PTH, and PTHR1 gene polymorphisms are not associated with bone size and height in Chinese nuclear families

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Abstract

We tested the relationship of the ApaI, Eco31I, BstBI, and (AAAG)n polymorphisms in the vitamin D receptor (VDR), collagen type I α-1 (COL1A1), parathyroid hormone (PTH), and parathyroid hormone (PTH)/PTH-related peptide receptor (PTHR1) genes with variations in bone size (BS) and height. Population stratification, total-family association, and within-family association were used to test these relationships in 400 Chinese nuclear families with a total of 1256 individuals. The BS at hip and spine was measured using a Hologic QDR 2000 dual-energy X-ray absorptiometry (DXA) scanner. The minor allele frequencies were 29.2%, 36.0%, and 14.0% for the VDR-ApaI, COL1A1-Eco31I, and PTH-BstBI markers, respectively. (AAAG)5 and (AAAG)6 of the PTHR1 gene are two major alleles in the Chinese people. Significant population stratification was found between the spine BS and PTHR1-(AAAG)5 (P = 0.048) and PTHR1-(AAAG)6 (P = 0.023), as well as between PTHR1-(AAAG)5 and height (P = 0.048), but we did not detect any significant within-family association or total-family association between the VDR, COL1A1, PTH, and PTHR1 gene polymorphisms and the variations in BS and height in our sample. Our results do not support that the VDR, COL1A1, PTH, and PTHR1 genes have an important influence on the variation in BS and height in our Chinese population.

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Authors and Affiliations

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

    Shu-Feng Lei, Yan-Bo Wang, Man-Yuan Liu, Xiao-Yang Mo & Hong-Wen Deng

  2. Osteoporosis Research Center and Department of Biomedical Sciences, Creighton University Medical Center, Omaha, NE, USA

    Hong-Wen Deng

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  1. Shu-Feng Lei
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Correspondence to Hong-Wen Deng.

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Lei, SF., Wang, YB., Liu, MY. et al. The VDR, COL1A1, PTH, and PTHR1 gene polymorphisms are not associated with bone size and height in Chinese nuclear families. J Bone Miner Metab 23, 501–505 (2005). https://doi.org/10.1007/s00774-005-0635-2

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  • DOI: https://doi.org/10.1007/s00774-005-0635-2

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