[Alu insertion-deletion polymorphism of COL13A1 and LAMA2 genes: The analysis of association with longevity].

Genetika Pub Date : 2016-10-01
D D Karimov, V V Erdman, T R Nasibullin, I A Tuktarova, R Sh Somova, Ya R Timasheva, O E Mustafina
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Abstract

The distribution of allele and genotype frequencies of Alu(I/D) polymorphic sites in the COL13A1 and LAMA2 genes coding extracellular matrix protein subunits was characterized in an ethnically homogeneous group (Tatars from the Republic of Bashkortostan, Russia). It was established that the frequency of individuals with the COL13A1*D/*D genotype was higher in the senile age period. The LAMA2*I/*D genotype was predisposing to longevity among women. According to the observed results, the frequency of the LAMA2*I/*D genotype was increased in senile individuals older than 90 years. The observed associations can be explained on the basis of the contemporary view by the importance of Alu elements in gene expression regulation at transcriptional and post-transcriptional levels, the involvement of collagen and laminin in maintaining the structure and function of the extracellular matrix, and the relationship between the extracellular matrix state, pathological changes and aging.

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COL13A1和LAMA2基因的Alu插入-缺失多态性:与寿命的关联分析。
编码细胞外基质蛋白亚基的COL13A1和LAMA2基因的Alu(I/D)多态性位点的等位基因分布和基因型频率在一个种族同质群体(俄罗斯巴什科尔托斯坦共和国的鞑靼人)中进行了表征。结果表明,COL13A1*D/*D基因型个体在老年期出现频率较高。LAMA2*I/*D基因型在女性中更容易长寿。根据观察结果,LAMA2*I/*D基因型在90岁以上的老年人中出现频率增加。在当代观点的基础上,观察到的关联可以通过Alu元件在转录和转录后水平的基因表达调控中的重要性,胶原蛋白和层粘连蛋白参与维持细胞外基质的结构和功能,以及细胞外基质状态、病理变化和衰老之间的关系来解释。
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