RTEL1 and TERT polymorphisms are associated with astrocytoma risk in the Chinese Han population

Tumour Biol. 2013 Dec;34(6):3659-66. doi: 10.1007/s13277-013-0947-0. Epub 2013 Jun 29.

Abstract

Common variants of multiple genes play a role in glioma onset. However, research related to astrocytoma, the most common primary brain neoplasm, is rare. In this study, we chose 21 tagging SNPs (tSNPs), previously reported to be associated with glioma risk in a Chinese case-control study from Xi'an, China, and identified their contributions to astrocytoma susceptibility. We found an association with astrocytoma susceptibility for two tSNPs (rs6010620 and rs2853676) in two different genes: regulator of telomere elongation helicase 1 (RTEL1) and telomerase reverse transcriptase (TERT), respectively. We confirmed our results using recessive, dominant, and additive models. In the recessive model, we found two tSNPs (rs2297440 and rs6010620) associated with increased astrocytoma risk. In the dominant model, we found that rs2853676 was associated with increased astrocytoma risk. In the additive model, all three tSNPs (rs2297440, rs2853676, and rs6010620) were associated with increased astrocytoma risk. Our results demonstrate, for the first time, the potential roles of RTEL1 and TERT in astrocytoma development.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Asian People / genetics
  • Astrocytoma / ethnology
  • Astrocytoma / genetics*
  • Brain Neoplasms / ethnology
  • Brain Neoplasms / genetics*
  • Case-Control Studies
  • Child
  • Child, Preschool
  • China
  • DNA Helicases / genetics*
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease / ethnology
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Odds Ratio
  • Polymorphism, Single Nucleotide*
  • Risk Factors
  • Telomerase / genetics*
  • Young Adult

Substances

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