Genetic polymorphisms in the telomere length-related gene ACYP2 are associated with the risk of colorectal cancer in a Chinese Han population

Oncotarget. 2017 Feb 7;8(6):9849-9857. doi: 10.18632/oncotarget.14219.


We investigated the association between single nucleotide polymorphisms (SNPs) in ACYP2, which has been associated with telomere length in several types of cancer, and the risk of CRC in a Chinese Han population. In a case-control study that included 247 cases and 300 healthy controls, 14 SNPs in ACYP2 were selected and genotyped using the Sequenom MassARRAY platform. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using unconditional logistic regression after adjusting for age and gender. We determined that rs843711 and rs843706 were associated with an increased risk of CRC (rs843711: OR = 1.376, 95% CI = 1.082-1.749, p = 0.009; rs843706: OR = 1.361, 95% CI = 1.069-1.733, p = 0.012). Additionally, rs6713088, rs843645, rs843711, and rs843706 were associated with an increased risk of CRC under additive and recessive models (p < 0.05). Finally, the "TTCTCGCC" and "CG" haplotypes decreased the risk of CRC, while the "AG" haplotype increase the risk of CRC. The association between rs843711 and CRC remained significant after Bonferroni correction for multiple comparisons (p ≤ 0.00036). Our data shed new light on the associations between genetic variants in the ACYP2 gene and CRC susceptibility in a Chinese Han population.

Keywords: ACYP2; association study; colorectal cancer; single nucleotide polymorphism (SNP); telomere length.

MeSH terms

  • Acid Anhydride Hydrolases / genetics*
  • Adult
  • Asian People / genetics
  • Biomarkers, Tumor / genetics*
  • Case-Control Studies
  • Chi-Square Distribution
  • China
  • Colorectal Neoplasms / ethnology
  • Colorectal Neoplasms / genetics*
  • Colorectal Neoplasms / pathology
  • Female
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Haplotypes
  • Heterozygote
  • Homozygote
  • Humans
  • Logistic Models
  • Male
  • Middle Aged
  • Odds Ratio
  • Phenotype
  • Polymorphism, Single Nucleotide*
  • Risk Assessment
  • Risk Factors
  • Telomere / pathology*
  • Telomere Homeostasis / genetics*


  • Biomarkers, Tumor
  • Acid Anhydride Hydrolases
  • ACYP2 protein, human