中国人群中SIRT1基因的常见变异与人类长寿
Common variants in SIRT1 and human longevity in a Chinese population.
作者信息
Lin Rong, Yan Dongjing, Zhang Yunxia, Liao Xiaoping, Gong Gu, Hu Junjie, Fu Yunxin, Cai Wangwei
机构信息
Department of Biology, Hainan Medical College, Haikou, 571199, Hainan, China.
Department of Biochemistry and Molecular Biology, Hainan Medical College, Haikou, 571199, Hainan, China.
出版信息
BMC Med Genet. 2016 Apr 18;17:31. doi: 10.1186/s12881-016-0293-3.
BACKGROUND
The silent information regulator SIR2/SIRT1gene has been demonstrated as regulating lifespan in many model organisms, including yeast, worms, fruit flies and rodents. SIRT1, the human homolog of SIR2, is considered a candidate gene as a modifier of human life expectancy.
METHODS
In the current study we included 616 long-lived individuals and 846 matched younger controls to investigate associations between 8 common single nucleotide polymorphisms (SNPs) (i.e., rs12778366, rs3758391, rs3740051, rs33957861, rs7896005, rs12413112, rs11599176 and rs4746720) in the SIRT1 gene and human longevity.
RESULTS
The 8 SNPs had strong linkage disequilibrium (LD) and were in an LD block, which was characterized by 4 common haplotypes that capture 99.3% of the genetic variation present within it. We found no evidence for statistically significant associations between the tested SIRT1 SNPs and longevity at the allele, genotype or haplotype levels.
CONCLUSIONS
Current findings show that several common variants in SIRT1 are not associated with human longevity.
背景
沉默信息调节因子SIR2/SIRT1基因已被证明在许多模式生物中调节寿命，包括酵母、蠕虫、果蝇和啮齿动物。SIRT1是SIR2的人类同源物，被认为是人类预期寿命调节因子的候选基因。
方法
在本研究中，我们纳入了616名长寿个体和846名匹配的年轻对照，以研究SIRT1基因中的8个常见单核苷酸多态性（SNP）（即rs12778366、rs3758391、rs3740051、rs33957861、rs7896005、rs12413112、rs11599176和rs4746720）与人类长寿之间的关联。
结果
这8个SNP具有很强的连锁不平衡（LD），处于一个LD块中，该LD块的特征是4种常见单倍型，捕获了其中99.3%的遗传变异。我们没有发现证据表明所测试的SIRT1 SNP与等位基因、基因型或单倍型水平上的长寿存在统计学显著关联。
结论
目前的研究结果表明，SIRT1中的几个常见变异与人类长寿无关。
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