Benigni Ariela, Orisio Silvia, Noris Marina, Iatropoulos Paraskevas, Castaldi Davide, Kamide Kei, Rakugi Hiromi, Arai Yasumichi, Todeschini Marta, Ogliari Giulia, Imai Enyu, Gondo Yasuyuki, Hirose Nobuyoshi, Mari Daniela, Remuzzi Giuseppe
Department of Molecular Medicine, Mario Negri Institute for Pharmacological Research, Centro Anna Maria Astori, Science and Technology Park Kilometro Rosso, Via Stezzano 87, 24126, Bergamo, Italy.
Age (Dordr). 2013 Jun;35(3):993-1005. doi: 10.1007/s11357-012-9408-8. Epub 2012 May 9.
Longevity phenotype in humans results from the influence of environmental and genetic factors. Few gene polymorphisms have been identified so far with a modest effect on lifespan leaving room for the search of other players in the longevity game. It has been recently demonstrated that targeted disruption of the mouse homolog of the human angiotensin II type 1 receptor (AT1R) gene (AGTR1) translates into marked prolongation of animal lifespan (Benigni et al., J Clin Invest 119(3):524-530, 2009). Based on the above study in mice, here we sought to search for AGTR1 variations associated to reduced AT1 receptor protein levels and to prolonged lifespan in humans. AGTR1 was sequenced in 173 Italian centenarians and 376 younger controls. A novel non-synonymous mutation was detected in a centenarian. Two polymorphisms in AGTR1 promoter, rs422858 and rs275653, in complete linkage disequilibrium, were significantly associated with the ability to attain extreme old age. We then replicated the study of rs275653 in a large independent cohort of Japanese origin (598 centenarians and semi-supercentenarians, 422 younger controls) and indeed confirmed its association with exceptional old age. In combined analyses, rs275653 was associated to extreme longevity either at recessive model (P = 0.007, odds ratio (OR) 3.57) or at genotype level (P = 0.015). Significance was maintained after correcting for confounding factors. Fluorescence activated cell sorting analysis revealed that subjects homozygous for the minor allele of rs275653 had less AT1R-positive peripheral blood polymorphonuclear cells. Moreover, rs275653 was associated to lower blood pressure in centenarians. These findings highlight the role of AGTR1 as a possible candidate among longevity-enabling genes.
人类的长寿表型是环境和遗传因素共同作用的结果。到目前为止,仅发现少数基因多态性对寿命有适度影响,这为寻找长寿过程中的其他因素留下了空间。最近有研究表明,靶向破坏人类血管紧张素II 1型受体(AT1R)基因(AGTR1)的小鼠同源基因可显著延长动物寿命(贝尼尼等人,《临床研究杂志》119(3):524 - 530,2009年)。基于上述小鼠研究,我们在此试图寻找与人类AT1受体蛋白水平降低及寿命延长相关的AGTR1变异。对173名意大利百岁老人和376名年轻对照者的AGTR1进行了测序。在一名百岁老人中检测到一个新的非同义突变。AGTR1启动子中的两个多态性位点rs422858和rs275653处于完全连锁不平衡状态,与活到极高龄的能力显著相关。然后我们在一个来自日本的大型独立队列(598名百岁老人和半超百岁老人,422名年轻对照者)中重复了对rs275653的研究,并确实证实了它与超高龄的关联。在联合分析中,rs275653在隐性模型(P = 0.007,优势比(OR)3.57)或基因型水平(P = 0.015)下均与极端长寿相关。校正混杂因素后,显著性仍然存在。荧光激活细胞分选分析显示,rs275653次要等位基因纯合的受试者外周血多形核细胞中AT1R阳性细胞较少。此外,rs275653与百岁老人的低血压有关。这些发现突出了AGTR1作为长寿相关基因中一个可能候选基因的作用。