Alu polymorphisms of autophagy and apoptosis regulatory genes as human lifespan factors

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To assess the contribution to survival of Alu-insertions in the ACE, PLAT, COL13A1, LAMA2, CDH4, SEMA6A, PKHD1L1, STK38L, HECW1, TEAD1 genes, which are candidates of aging and longevity, amid the senile physiological and pathological phenotype, was carried out the association analysis with life expectancy. Survival and mortality data were obtained for 1,382 elderly people, who were selected from the sample of Tatars residing in the Republic of Bashkortostan (total 1790 people from 18 to 109 years). Mortality risk was higher among carriers of the STK38L Alu-insertion genotype (Ya5ac2145*II, HR = 2.07, P = 0.02). Alu-insertion in the HECW1 and TEAD1 genes has demonstrated a survival protection effect (Ya5NBC182*II, HR = 0.71, P = 0.038 and Ya5ac2013*II, HR = 0.74, P = 0.035 respectively). The survival amid the persons with various clinical phenotypes was associated with the Alu polymorphism of the SEMA6A (Yb8NBC597*ID, HR = 0.54, P = 0.016 for the cerebrovascular diseases), TEAD1 (Ya5ac2013*II, HR = 0.57, P = 0.016 for the cardiovascular pathologies) and LAMA2 (Ya5-MLS19*ID, HR = 0.36, P = 0.03 for multimorbidity status) genes. Thus, the genes involved in the regulation of autophagy and apoptosis were associated with survival and longevity.

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作者简介

V. Erdman

Institute of Biochemistry and Genetics – Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences; Bashkir State Medical University

编辑信件的主要联系方式.
Email: danivera@mail.ru
俄罗斯联邦, Ufa; Ufa

D. Karimov

Institute of Biochemistry and Genetics – Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences; Ufa Research Institute of Occupational Medicine and Human Ecology

Email: danivera@mail.ru
俄罗斯联邦, Ufa; Ufa

I. Tuktarova

Institute of Biochemistry and Genetics – Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences

Email: danivera@mail.ru
俄罗斯联邦, Ufa

A. Petintseva

Institute of Biochemistry and Genetics – Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences

Email: danivera@mail.ru
俄罗斯联邦, Ufa

Y. Timasheva

Institute of Biochemistry and Genetics – Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences; Bashkir State Medical University

Email: danivera@mail.ru
俄罗斯联邦, Ufa; Ufa

T. Nasibullin

Institute of Biochemistry and Genetics – Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences

Email: danivera@mail.ru
俄罗斯联邦, Ufa

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2. 1. Accumulated risk of all-cause mortality in the general group associated with Alu insertion in the STK38L (a), TEAD1 (b), and HECW1 (c and d) genes.

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3. Fig. 2. Accumulated risk of all-cause mortality in the group of men associated with Alu insertion in the STK38L gene.

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4. 3. Accumulated risk of all-cause mortality in the group of women associated with Alu insertion in the HECW1 gene.

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5. 4. Accumulated mortality risk in groups differentiated by causes of death: from cerebrovascular diseases associated with Alu insertion in the SEMA6A gene (a); from cardiovascular diseases associated with Alu insertion in the TEAD1 gene (b); with polymorbidity, associated with Alu insertion in the LAMA2 gene (in).

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