Kim Jung Gu, Kwon Jae Hee, Kim Seok Hyun, Choi Young Min, Moon Shin Yong, Lee Jin Yong
Department of Obstetrics and Gynecology, College of Medicine, Seoul National University Hospital, 28 Yeungun-dong Chongno-Ku, Seoul 110-744, Korea.
Am J Obstet Gynecol. 2003 Nov;189(5):1234-40. doi: 10.1067/s0002-9378(03)00650-1.
The objective of the study was to evaluate the effect of vitamin D receptor (VDR) gene haplotypes on bone mineral density (BMD).
The VDR Bsm I, Apa I, Taq I, and poly(A) polymorphisms were analyzed in 417 postmenopausal Korean women. Serum 1,25(OH)(2) vitamin D(3), osteocalcin, bone alkaline phosphatase, and CrossLaps were measured by immunoradiometric assay and enzyme-linked immunosorbent assay. BMD at the lumbar spine and proximal femur was determined by dual-energy x-ray absorptiometry.
At all skeletal sites, genotypes not carrying the baTL haplotype allele (uppercase letters signifying the absence, lowercase letters the presence, of the restriction site, and L a repeat length of more than 17) had significantly lower BMD than baTL homozygotes. The former genotypes were more prevalent in women with low bone mass than in healthy women. No significant differences in vitamin D(3) or bone markers levels were noted among the baTL haplotype genotypes.
The VDR baTL haplotype allele is related to bone mass in Korean women.
本研究的目的是评估维生素D受体（VDR）基因单倍型对骨密度（BMD）的影响。
对417名绝经后韩国女性的VDR Bsm I、Apa I、Taq I和多聚腺苷酸（poly(A)）多态性进行了分析。采用免疫放射分析和酶联免疫吸附测定法检测血清1,25(OH)₂维生素D₃、骨钙素、骨碱性磷酸酶和交联C端肽（CrossLaps）。通过双能X线吸收法测定腰椎和股骨近端的骨密度。
在所有骨骼部位，不携带baTL单倍型等位基因的基因型（大写字母表示限制性位点缺失，小写字母表示存在，L表示重复长度超过17）的骨密度显著低于baTL纯合子。前一种基因型在低骨量女性中比在健康女性中更常见。在baTL单倍型基因型之间，维生素D₃或骨标志物水平未观察到显著差异。
VDR baTL单倍型等位基因与韩国女性的骨量有关。
