Journal of Clinical Endocrinology & Metabolism, Vol 80, 3677-3681, Copyright © 1995 by Endocrine Society

ARTICLES

Lack of association between vitamin D receptor genotypes and osteoporosis in Koreans

SK Lim, YS Park, JM Park, YD Song, EJ Lee, KR Kim, HC Lee and KB Huh
Department of Internal Medicine, College of Medicine, Yonsei University, Seoul, Korea.

To evaluate whether common allelic variants in the gene encoding the vitamin D receptor (VDR) were useful in predicting differences in bone mineral density (BMD) and bone turnover rate in Koreans, we analyzed the restriction pattern of the polymerase chain reaction product of the VDR gene with the Bsm1 enzyme and serum osteocalcin in patients with osteoporosis. The prevalence of the BB genotype in the controls was extremely low when compared with that in other reports: the BB, Bb, and bb genotypes accounted for 1.4%, 12.9%, and 85.7%, respectively. Only 2.8% of those patients with osteoporosis had the BB genotype. In contrast, 12.5% had the Bb genotype, and 84.7% had the bb genotype. The prevalence of the BB genotype in patients with severe osteoporosis was also extremely low: the BB, Bb, and bb genotypes accounted for 0%, 12.4%, and 87.6%, respectively. Compared with the mean serum osteocalcin level of the pre- and post-menopausal controls, the level in patients with severe osteoporosis was higher, and this was statistically significant. As expected, a negative correlation was observed between the serum osteocalcin levels and the age-matched Z scores for spinal BMD. However, no correlation was found in the femoral neck BMD. These results suggest that restriction fragment length polymorphism analysis of the VDR gene with a Bsm1 restriction enzyme in Koreans is not helpful for early detection of patients at risk of developing osteoporosis. This is true even in patients with a high rate of bone turnover. Our data suggest extreme ethnic differences in the pattern of prevalence of the VDR allele.

This article has been cited by other articles:

				J. A. Eisman Pharmacogenetics of the Vitamin D Receptor and Osteoporosis Drug Metab. Dispos., April 1, 2001; 29(4): 505 - 512. [Abstract] [Full Text]

				L. Becherini, L. Gennari, L. Masi, R. Mansani, F. Massart, A. Morelli, A. Falchetti, S. Gonnelli, G. Fiorelli, A. Tanini, et al. Evidence of a linkage disequilibrium between polymorphisms in the human estrogen receptor {alpha} gene and their relationship to bone mass variation in postmenopausal Italian women Hum. Mol. Genet., August 12, 2000; 9(13): 2043 - 2050. [Abstract] [Full Text] [PDF]

				J. A. Eisman Genetics of Osteoporosis Endocr. Rev., December 1, 1999; 20(6): 788 - 804. [Abstract] [Full Text]

				T. NIIMI, H. TOMITA, S. SATO, H. KAWAGUCHI, K. AKITA, H. MAEDA, Y. SUGIURA, and R. UEDA Vitamin D Receptor Gene Polymorphism in Patients with Sarcoidosis Am. J. Respir. Crit. Care Med., October 1, 1999; 160(4): 1107 - 1109. [Abstract] [Full Text]

				C. Fardella, P. Zamorano, L. Mosso, L. Gomez, M. Pinto, J. Soto, E. Oestreicher, P. Cortes, X. Claverie, and J. Montero A-6G Variant of Angiotensinogen Gene and Aldosterone Levels in Hypertensives Hypertension, October 1, 1999; 34(4): 779 - 781. [Abstract] [Full Text] [PDF]

				C. E. Fardella, H. Poggi, P. Pineda, J. Soto, I. Torrealba, A. Cattani, E. Oestreicher, and A. Foradori Salt-Wasting Congenital Adrenal Hyperplasia: Detection of Mutations in CYP21B Gene in a Chilean Population J. Clin. Endocrinol. Metab., September 1, 1998; 83(9): 3357 - 3360. [Abstract] [Full Text]

				L. Gennari, L. Becherini, L. Masi, R. Mansani, S. Gonnelli, C. Cepollaro, S. Martini, A. Montagnani, G. Lentini, A. M. Becorpi, et al. Vitamin D and Estrogen Receptor Allelic Variants in Italian Postmenopausal Women: Evidence of Multiple Gene Contribution to Bone Mineral Density J. Clin. Endocrinol. Metab., March 1, 1998; 83(3): 939 - 944. [Abstract] [Full Text]