Association of interleukin-6 promoter variant with bone mineral density in pre-menopausal women
Association of interleukin-6 promoter variant with bone mineral density in pre-menopausal women
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DOI：
10.1007/s10038-003-0020-8
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发表时间：
2003-01-01
影响因子：
3.5
通讯作者：
Shin, HD
中科院分区：
文献类型：
--
作者：
Chung, HW;Seo, JS;Shin, HD
白介素6(IL6)在免疫反应、造血和骨吸收的调节中起着重要的作用。用单碱基延伸法对IL6启动子区域的3个单核苷酸多态性(SNP)进行了基因分型。各SNP频率分别为0.002(IL6-597G->；A)、0.27(IL6-572G-->；C)。在韩国人(n=1,082)中有0.002(IL6-174G-->；C)。IL6-597G-&Gt；A和IL6-174G--&Gt；C完全连锁在一起(d(2)=1)，并且表现出很低的等位基因频率(0.002)，这在高加索人中很常见。另一方面，IL6-572G-&Gt；C*C等位基因频率(0.27)明显高于高加索人群(<；0.07)。IL 6启动子中的一个SNPs，即IL 6-572G--&Gt；C，与骨密度显著相关，即C等位基因与骨密度升高相关(P=0.02，共显性模式；P=0.007，显性模式)。C纯合子个体的平均骨密度最高(0.67+/-0.15)，G纯合子个体最低(0.58+/-0.19)，杂合子个体居中(0.64+/-0.21)。在目前的研究中，我们描述了IL6启动子区域的一个变异，它以基因剂量依赖的方式与绝经前妇女较高的BMD呈正相关。
Interleukin-6 (IL6) has many roles essential to the regulation of the immune response, hematopoiesis, and bone resorption. Three single-nucleotide polymorphisms (SNP) in the IL6 promoter region were genotyped by the single-base extension method. The frequencies of each SNP were 0.002 (IL6-597 G --> A), 0.27 (IL6-572 G --> C). and 0.002 (IL6-174 G --> C) in a Korean population (n = 1,082). IL6-597 G --> A and IL6-174 G --> C were totally linked together (d(2) = 1) and showed very low allele frequencies (0.002), which are common in Caucasians. On the other hand, the frequency of the IL6-572 G --> C*C allele was much higher (0.27) than that in Caucasian populations ( < 0.07). One of the IL6 promoter SNPs, viz., IL6-572 G --> C, showed significant associations with bone mineral density (BMD), i.e., the C allele was associated with increased BMD (P = 0.02, co-dominant model; P = 0.007, dominant model). The mean BMD was highest in homozygous C individuals (0.67 +/- 0.15), lowest in homozygous G individuals (0.58 +/- 0.19), and intermediate in heterozygotes (0.64 +/- 0.21). In the present study, we describe a variant in the IL6 promoter region that shows positive association with higher BMD in a gene-dose-dependent manner in pre-menopausal women.