Polymorphisms in Telomere Length Associated TERC and TERT predispose for Ischemic Stroke in a Chinese Han population

Sci Rep. 2017 Jan 6:7:40151. doi: 10.1038/srep40151.

Abstract

The role of telomere in genomic stability is an established fact. Variation in leukocyte telomere length (LTL) has been considered a crucial factor that associated with age-associated diseases. To elucidate the association between LTL variation and ischemic stroke (IS) risk, we selected ten single nucleotide polymorphisms (SNPs) in three genes (TERC, TERT and RTEL1) that previously reported link to LTL, and genotyped SNPs of these genes in a case-control study. The association between polymorphisms and IS risk were tested by Chi squared test and haplotype analysis. In allele association analysis, allele "C" in rs10936599 of TERC gene and allele "G" in rs2853677 of TERT gene were found to have an increased risk of IS when compared with allele "T" and "A", respectively. Model association analysis showed that genotype "G/A" in the overdominant model and genotypes "G/A" and "A/A" in the dominant model of rs2242652 presented a more likelihood to have IS. Another TERT locus (rs2853677) with genotype "G" was also found IS-related risky in the log-additive model. Taken together, our results suggest a potential association between LTL related TERC, TERT gene variants and ischemic stroke risk.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People / genetics
  • Brain Ischemia / complications
  • Brain Ischemia / genetics*
  • China
  • DNA Helicases / genetics
  • Humans
  • Leukocytes / metabolism*
  • Polymorphism, Single Nucleotide*
  • RNA / genetics*
  • Stroke / complications
  • Stroke / genetics*
  • Telomerase / genetics*
  • Telomere / metabolism*
  • Telomere Homeostasis

Substances

  • telomerase RNA
  • RNA
  • TERT protein, human
  • Telomerase
  • RTEL1 protein, human
  • DNA Helicases