Xie Liang, Gong Yuan-Ying, Lian Shi-Gang, Yang Juan, Gao Shou-Jun, Xu Liang-You, Zhang Ya-Ping
State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China.
BMC Res Notes. 2010 Mar 3;3:55. doi: 10.1186/1756-0500-3-55.
Previous studies have suggested a probable association between the polymorphism of a microsatellite locus located in the promoter of IGF1 (Insulin-like growth factor 1) gene and the serum level of IGF1, as well as many age-related diseases. Based on these results, we hypothesized that this polymorphism may influence longevity in humans. We performed an association study in a Han Chinese population to test this hypothesis.
We recruited 493 elderly Han Chinese individuals (females >/= 94; males >/= 90) and 425 young individuals (controls) from Dujiangyan (Sichuan province, China). The genotype distributions and allele frequencies of the microsatellite site in the elderly and control groups were compared by chi square test.Our results suggested that there was no association between the microsatellite polymorphism and longevity in our Han Chinese population. However, there were more male persons with 18/21 genotype in elderly group than that in control group (11.11 vs. 5.45%, p = 0.011). As the difference was not significant when corrected by Bonferroni method, we speculate that the 18/21 genotype can not be functional in longevity; however, it may link with the real functional loci as there is a long haplotype block embracing the microsatellite locus.
There was no association between polymorphism of the microsatellite in promoter of IGF1 gene and longevity in our study. Future association studies containing the long haplotype block are deserved and can test our speculation of the potential linkage of 18/21 genotype and functional loci.
先前的研究表明,位于胰岛素样生长因子1(IGF1)基因启动子区域的微卫星位点多态性与IGF1血清水平以及许多与年龄相关的疾病之间可能存在关联。基于这些结果,我们推测这种多态性可能影响人类的寿命。我们在汉族人群中进行了一项关联研究以验证这一假设。
我们从中国四川省都江堰招募了493名汉族老年个体(女性≥94岁;男性≥90岁)和425名年轻个体(对照组)。通过卡方检验比较老年组和对照组中微卫星位点的基因型分布和等位基因频率。我们的结果表明,在我们的汉族人群中,微卫星多态性与寿命之间没有关联。然而,老年组中基因型为18/21的男性人数多于对照组(11.11%对5.45%,p = 0.011)。由于采用Bonferroni方法校正后差异不显著,我们推测18/21基因型在寿命方面可能无功能;然而,它可能与真正的功能位点相关联,因为存在一个包含该微卫星位点的长单倍型块。
在我们的研究中,IGF1基因启动子区域微卫星多态性与寿命之间没有关联。未来值得开展包含长单倍型块的关联研究,以检验我们关于18/21基因型与功能位点潜在关联的推测。