Castro, Isac de

Franco, André Silva

Freitas, Thiago Quadrante

Pereira, Rosa Maria Rodrigues

English

Cadernos Espinosanos (E-Journal)

Rev Med (São Paulo). 2018 May-June;97(3):374-5.374doi: http://dx.doi.org/10.11606/issn.1679-9836.v97i3p374-375KLOTHO polymorphisms in the elderly population from the  Sao Paulo Ageing & Health StudyThiago Quadrante Freitas1, André Silva Franco1, Isac de Castro2, Rosa Maria Rodrigues Pereira1Award Panels Clinical COMU 2017 - XXXVI Congresso Médico Universitário da FMUSP, São Paulo, 6-8 out. 2017.1- Bone Metabolism Laboratory, Rheumatology Division, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, BR.2- Biostatistician.Corresponding address: Av. Dr. Arnaldo, 455, 3rd floor, room 3193. Sao Paulo, SP, BR. CEP: 01246-903. E-mail: thiago.f@fm.usp.br.The KLOTHO gene was discovered in 1997 when its defective expression in mice led to a syndrome that resembles human ageing, including a short lifespan, arteriosclerosis, and osteoporosis1. Its byproduct exists as a secreted protein2 and as a transmembrane protein expressed predominantly in the distal tubules of the kidney, choroid plexus, and pituitary gland[1], having unknown function in humans. The secreted form suppresses oxidative stress and growth factor signaling, including insulin/IGF-1 signaling, which is associated with longer life span. In fact, studies in human populations attempted to show associations between a functional variant of Klotho, called ‘‘KL-VS’’, which has six polymorphisms in linkage disequilibrium, and aging/longevity3.At this moment, at least 10 mutations and single-nucleotide polymorphisms (SNPs) were described in humans; 395 G>A and 1818 C>T are the most common SNPs4. Nonetheless, the effects of each SNP in human ageing is still obscure.Associations between specific KLOTHO SNPs and age-related outcomes were demonstrated in different populations. The 395 G>A polymorphism was associated with blood pressure levels in Korean women, and the 1818 C>T polymorphism with fasting plasma glucose in the same population5. In Japanese men, both SNPs correlated to body-fat ratio and to HDL cholesterol levels; and in Japanese women, to fasting glucose, bone mineral density and systolic blood pressure6.In Brazilian population there are no studies regarding KLOTHO polymorphisms and age-related comorbidities. Hence, our group seeks to evaluate three KLOTHO gene polymorphisms in an elderly population from the Sao Paulo Ageing & Health Study (SPAH) and their potential association with the prevalence of senility-related outcomes.REFERENCES1.  Kuro-o M, Nabeshima Y, Matsumura Y, Aizawa H, Kawaguchi H, Suga T, et al. Mutation of the mouse Klotho gene leads to a syndrome resembling ageing. Nature. 1997;390(6655):45-51. Available from: doi: 10.1038/36285.2.  Xu X, Liang X, Hu G, Zhang J, Lei H. Renal function and Klotho gene polymorphisms among Uygur and Kazak populations in Xinjiang, China. Med Sci Monit. 2015;21:44-51. doi: 10.12659/MSM.891213.3.  Di Bona D, Accardi G, Virruso C, Candore G, Caruso C. Association of Klotho polymorphisms with healthy aging: a systematic review and meta-analysis. Rejuvenation Res. 2014;17(2):212-6. doi: 10.1089/rej.2013.1523. 4.  Shimoyama Y, Taki K, Mitsuda Y, Tsuruta Y, Hamajima N, Niwa T. KLOTHO gene polymorphisms G-395A and C1818T are associated with low-density lipoprotein cholesterol and 375Freitas TQ, et al. KLOTHO polymorphisms in the elderly population.uric acid in Japanese hemodialysis patients. Am J Nephrol. 2009;30(4):383-8. doi: 10.1159/000235686.5.  Rhee EJ, Oh KW, Lee WY, Kim SY, Jung CH, Kim BJ, et al. The differential effects of age on the association of KLOTHO gene polymorphisms with coronary artery disease. Metabolism. 2006;55(10):1344-51. doi: 10.1016/j.metabol.2006.05.020.6.  Shimoyama Y, Nishio K, Hamajima N, Niwa T. KLOTHO gene polymorphisms G-395A and C1818T are associated with lipid and glucose metabolism, bone mineral density and systolic blood pressure in Japanese healthy subjects. Clin Chim Acta. 2009;406(1-2):134-8. doi: 10.1016/j.cca.2009.06.011.Submitted for publication: June 18, 2018Accepted in: June 21, 2018 

KLOTHO polymorphisms in the elderly population from the  Sao Paulo Ageing & Health Study

https://www.revistas.usp.br/revistadc/article/download/147303/141917

KLOTHO polymorphisms in the elderly population from the Sao Paulo Ageing & Health Study

Abstract

Similar works

Full text

Available Versions

Cadernos Espinosanos (E-Journal)