A genome-wide association study identifies a novel locus on chromosome 18q12.2 influencing white cell telomere length

J Med Genet. 2009 Jul;46(7):451-4. doi: 10.1136/jmg.2008.064956. Epub 2009 Apr 8.

Abstract

Background: Telomere length is a predictor for a number of common age related diseases and is a heritable trait.

Methods and results: To identify new loci associated with mean leukocyte telomere length we conducted a genome wide association study of 314,075 single nucleotide polymorphisms (SNPs) and validated the results in a second cohort (n for both cohorts combined = 2790). We identified two novel associated variants (rs2162440, p = 2.6 x 10(-6); and rs7235755, p = 5.5 x 10(-6)) on chromosome 18q12.2 in the same region as the VPS34/PIKC3C gene, which has been directly implicated in the pathway controlling telomere length variation in yeast.

Conclusion: These results provide new insights into the pathways regulating telomere homeostasis in humans.

Publication types

  • Research Support, Non-U.S. Gov't
  • Twin Study

MeSH terms

  • Chromosomes, Human, Pair 18*
  • Cohort Studies
  • Data Interpretation, Statistical
  • Female
  • Genome, Human
  • Genome-Wide Association Study / methods*
  • Humans
  • Leukocytes / metabolism
  • Leukocytes / ultrastructure*
  • Male
  • Polymorphism, Single Nucleotide
  • Reproducibility of Results
  • Sex Factors
  • Telomere / chemistry
  • Telomere / genetics*
  • Telomere / metabolism
  • Twins*