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Korean Journal of Obstetrics & Gynecology 2002;45(11):1982-1990.
Published online November 1, 2002.
Relationship between vitamin D receptor gene polymorphism, and bone mineral density in postmenopausal Korean women.
Jung Gu Kim, Jae Hee Kwon, Seok Hyun Kim, Young Min Choi, Shin Yong Moon, Jin Yong Lee
Department of Obstetrics and Gynecology, College of Medicine, Seoul National University, Seoul, Korea.
To investigate the relationship between vitamin D receptor (VDR) gene polymorphisms and bone mineral density (BMD) in postmenopausal Korean women, and to evaluate if VDR gene polymorphisms are associated with serum levels of 1,25 (OH)2 vitamin D3 and bone turnover markers METHODS: The BsmI, TaqI, ApaI, and FokI polymorphisms were analyzed by restriction fragment length polymorphism in 443 postmenopausal Korean women. Serum CrossLaps (CTX), bone alkaline phosphatase (BAP), osteocalcin and 1,25 (OH)2 vitamin D3 levels were measured by enzyme linked immunosorbent assay and immmunoassay and BMD at the lumbar spine and proximal femur by dual energy X-ray absorptiometry. RESULTS: BMD at the femoral neck and Ward' triangle in women with the Bb, and Tt genotype (uppercase letters signifying the absence and lowercase letters the presence of the restriction site) was lower than that in women with the bb, and tt genotype respectively. Haplotype analysis showed that BbTt genotype had lower BMD at all skeletal sites than bbtt genotype. No significant association between adjusted BMD at any skeletal site and the FokI or ApaI genotypes was observed. There were no significant associations between the adjusted levels of the bone markers and 1,25 (OH)2 vitamin D3 and single or combined genotypes. CONCLUSION: The VDR gene BsmI, and TaqI polymorphisms are genetic factors which may affect BMD at the lumbar spine and proximal femur in postmenopausal Korean women, but does not affect serum levels of 1,25 (OH)2 vitamin D3 and bone turnover markers.
Key Words: Postmenopausal women, VDR gene polymorphism, BMD, bone marker, vitamin D3

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