Collagen alpha-1(XIII) chain (COLXIIIA1)

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

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.

MeSH Terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Alu Elements
  • Collagen
  • Female
  • Gene Expression Regulation
  • Humans
  • INDEL Mutation
  • Laminin
  • Longevity
  • Male
  • Middle Aged
  • Polymorphism, Genetic