Association of a single-nucleotide polymorphism in low-density lipoprotein receptor-related protein 5 gene with bone mineral density
Association of a single-nucleotide polymorphism in low-density lipoprotein receptor-related protein 5 gene with bone mineral density
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DOI：
10.1007/s00774-003-0492-9
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发表时间：
2004-07-01
影响因子：
3.3
通讯作者：
Inoue, S
中科院分区：
文献类型：
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作者：
Urano, T;Shiraki, M;Inoue, S
低密度脂蛋白受体相关蛋白5（LRP 5）是成骨细胞生长和分化的重要调节因子，影响脊椎动物的峰值骨量。在这里，我们分析是否LRP 5基因参与绝经后骨质疏松症的病因，使用骨密度（BMD）和LRP 5基因单核苷酸多态性（SNP）之间的关联分析。在308名绝经后的日本妇女（65.2 ± 9.6岁;平均值± SD）中检测了LRP 5基因IVS 17 - 1677 C> A（内含子17）的SNP与BMD的相关性。携带至少一个变体A等位基因的受试者（CA + AA; n = 142）与无A等位基因的受试者相比，全身和腰椎BMD的Z评分显著降低（CC; n = 166）（全身，0.08 ± 1.09 vs 0.50 ± 1.03; P = 0.0022;腰椎，-0.42 ± 1.43 vs-0.02 ± 1.42; P = 0.013）。这些研究结果表明，LRP 5基因是绝经后妇女骨密度的遗传决定因素的候选人，该SNP可能是有用的预测骨质疏松症的风险的遗传标记。
Low-density lipoprotein receptor-related protein 5 (LRP5) is an important regulator of osteoblast growth and differentiation, affecting peak bone mass in vertebrates. Here, we analyzed whether the LRP5 gene was involved in the etiology of postmenopausal osteoporosis, using association analysis between bone mineral density (BMD) and an LRP5 gene single-nucleotide polymorphism (SNP). Association of an SNP in the LRP5 gene at IVS17-1677C > A (intron 17) with BMD was examined in 308 postmenopausal Japanese women (65.2 +/- 9.6 years; mean +/- SD). The subjects bearing at least one variant A allele (CA + AA; n = 142) had significantly lower Z scores for total body and lumbar BMD than the subjects with no A allele (CC; n = 166) (total body, 0.08 +/- 1.09 versus 0.50 +/- 1.03; P = 0.0022; lumbar spine, -0.42 +/- 1.43 versus -0.02 +/- 1.42; P = 0.013). These findings suggest that the LRP5 gene is a candidate for the genetic determinants of BMD in postmenopausal women, and this SNP could be useful as a genetic marker for predicting the risk of osteoporosis.