Jiang De-Ke, Shen Hui, Li Miao-Xin, Jiang Cheng, Yang Na, Zhu Jie, Wu Yong, Qin Yue-Juan, Zhou Qi, Deng Hong-Wen
Laboratory of Molecular and Statistical Genetics, College of Life Sciences, Hunan Normal University, Changsha, P. R. China.
Bone. 2005 Apr;36(4):694-9. doi: 10.1016/j.bone.2005.01.013.
Osteoporosis is a major public health problem, mainly characterized by low bone mineral density (BMD). BMD is a complex trait that is determined by multiple genes. Insulin-like growth factor I (IGF-I) is an important growth factor of bone and thus IGF-I gene has been considered as an attractive candidate gene for osteoporosis. A few studies on the relationship between variants of the IGF-I gene and BMD variation, via traditional association and/or linkage methods, have yielded conflicting results. In this study, we simultaneously tested association and/or linkage of a cytosine-adenine (CA) repeat polymorphism at 1 kb upstream of the transcription initiation site of the IGF-I gene with BMD variation in a large cohort of premenopausal Chinese women. A total of 1263 subjects from 402 Chinese nuclear families were examined. Each family consists of both parents and at least one daughter aged between 20 and 45 years. BMDs (g/cm(2)) at the lumbar spine and hip were measured using dual-energy X-ray absorptiometry (DXA). Applying the QTDT (quantitative transmission disequilibrium tests) progam, we did not find significant evidence of association or linkage between the CA repeat polymorphism of the IGF-I gene and BMD variation at any skeletal site. Our data do not support the IGF-I gene having major effect on BMD variation in premenopausal Chinese women.
骨质疏松症是一个主要的公共卫生问题，主要特征是骨矿物质密度（BMD）低。骨矿物质密度是一种由多个基因决定的复杂性状。胰岛素样生长因子I（IGF-I）是一种重要的骨生长因子，因此IGF-I基因被认为是骨质疏松症一个有吸引力的候选基因。通过传统的关联和/或连锁方法，对IGF-I基因变异与骨矿物质密度变化之间关系的一些研究得出了相互矛盾的结果。在本研究中，我们在一大群绝经前中国女性中，同时检测了IGF-I基因转录起始位点上游1 kb处的胞嘧啶-腺嘌呤（CA）重复多态性与骨矿物质密度变化之间的关联和/或连锁。共检查了来自402个中国核心家庭的1263名受试者。每个家庭由父母双方和至少一名年龄在20至45岁之间的女儿组成。使用双能X线吸收法（DXA）测量腰椎和髋部的骨矿物质密度（g/cm²）。应用QTDT（定量传递不平衡检验）程序，我们未发现IGF-I基因的CA重复多态性与任何骨骼部位的骨矿物质密度变化之间存在显著的关联或连锁证据。我们的数据不支持IGF-I基因对绝经前中国女性的骨矿物质密度变化有主要影响。
