Association and linkage analyses of interleukin-6 gene 634C/G polymorphism and bone phenotypes in Chinese
Association and linkage analyses of interleukin-6 gene 634C/G polymorphism and bone phenotypes in Chinese
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DOI：
10.1007/s00774-004-0607-y
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发表时间：
2005-07-01
影响因子：
3.3
通讯作者：
Deng, HW
中科院分区：
文献类型：
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作者：
Lei, SF;Liu, YZ;Deng, HW
在这项研究中，我们测试了白细胞介素-6（IL-6）基因作为一个重要的候选基因，其连锁和关联的骨表型（骨密度[BMD]和骨大小）的变化，在中国年轻女性受试者。我们对来自402个中国核心家庭的1263个个体的IL-6基因-634C/G限制性片段长度多态性（RFLP）位点（ID，RS 1800796）进行了基因分型，这些核心家庭由父母双方和至少一个健康女儿组成（平均年龄± SD，31.4 ± 5.8岁）。使用女儿的骨表型，我们测试了-634 C/G标记与脊柱和髋部骨表型之间的全家族关联、家族内关联（通过传递不平衡检验，[TDT]）和连锁。尽管观察到IL-6基因-634C/G标记物与L1-4脊柱BMD（经年龄、体重和身高校正）之间存在关联趋势，但未发现骨大小和BMD之间存在显著关联或连锁。我们的结果以及其他研究的结果表明，IL-6基因虽然对绝经后骨质流失很重要，但对中国人群的峰值骨量变化影响可能有限。
In this study, we tested the interleukin-6 (IL-6) gene as an important candidate gene for its linkage and association with the variation of bone phenotypes (bone mineral density [BMD] and bone size) in young Chinese female subjects. We genotyped the IL-6 gene at the -634C/G restriction fragment length polymorphism (RFLP) site (ID, RS1800796) in 1263 individuals from 402 Chinese nuclear families, composed of both parents and at least one healthy daughter (mean age +/- SD, 31.4 +/- 5.8 years). Using the daughters' bone phenotypes, we tested total-family association, within-family association (via transmission disequilibrium test, [TDT]), and linkage, between the -634C/G marker and bone phenotypes at the spine and the hip. No significant association or linkage was found for bone size and BMD, although a trend was observed for linkage between the IL-6 gene -634C/G marker and L1-4 spinal BMD (adjusted for age, weight, and height). Our results, together with the findings from other studies, indicate that the IL-6 gene, although important for postmenopausal bone loss, may have a limited impact on peak bone mass variation in a Chinese population.