Association of a RUNX2 Promoter Polymorphism with Bone Mineral Density in Postmenopausal Korean Women
Association of a RUNX2 Promoter Polymorphism with Bone Mineral Density in Postmenopausal Korean Women
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DOI：
10.1007/s00223-009-9246-6
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发表时间：
2009-06-01
影响因子：
4.2
通讯作者：
Lee, Jong-Young
中科院分区：
文献类型：
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作者：
Lee, Hee-Jung;Koh, Jung-Min;Lee, Jong-Young
骨质疏松症的特征是成骨细胞生成受损。骨矿物质密度（BMD）是骨强度的主要决定因素。RUNX 2是成骨细胞特异性转录因子，参与成骨细胞分化和骨化。为了确定RUNX 2是否与不同种族人群的BMD相关，我们使用Illuminar GoldenGate系统在729名绝经后韩国女性中研究了两个RUNX 2启动子（P1和P2）内的SNP。在RUNX 2 - 1025 T > C SNP处携带次要纯合子基因型（CC）的受试者位于P2的rs7771980与腰椎BMD降低显著相关（p = 0.02）和股骨近端部位的BMD（转子，p = 0.05;全股骨，p = 0.04）分别与携带主要纯合子基因型（TT）或杂合子基因型（TC）的受试者相比。这些结果提供了一种有趣的基因型关联，与先前报道的西班牙和澳大利亚队列中BMD与RUNX 2 - 1025 T > C P2 SNP的关联互补。因此，我们认为，RUNX 2 P2多态性（-1025 T > C）可能是一个有用的骨代谢的遗传标记，并可能在绝经后韩国妇女的BMD中发挥重要作用。
Osteoporosis is characterized by impaired osteoblastogenesis. Bone mineral density (BMD) is a major determinant of bone strength. RUNX2 is an osteoblast-specific transcription factor involved in osteoblast differentiation and ossification. To determine whether RUNX2 is associated with BMD in an ethnically distinct population, we investigated SNPs within the two RUNX2 promoters (P1 and P2) using the Illuminar GoldenGate system in 729 postmenopausal Korean women. Subjects bearing the minor homozygote genotype (CC) at the RUNX2 -1025 T > C SNP (rs7771980) located in P2 showed a significant association with reduced lumbar spine BMD (p = 0.02) and BMDs at proximal femur sites (trochanter, p = 0.05; total femur, p = 0.04) compared with subjects carrying the major homozygote genotype (TT) or the heterozygote genotype (TC), respectively. These results present an interesting genotype association complementary to the previously reported association of BMD with the RUNX2 -1025 T > C P2 SNP in Spanish and Australian cohorts. Therefore, we suggest that the RUNX2 P2 polymorphism (-1025 T > C) may be a useful genetic marker for bone metabolism and may play an important role in BMD in postmenopausal Korean women.