J Med Genet 46:451-454 doi:10.1136/jmg.2008.064956
  • Short report

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

Open Access
  1. M Mangino1,
  2. J B Richards1,2,
  3. N Soranzo1,3,
  4. G Zhai1,
  5. A Aviv4,
  6. A M Valdes1,
  7. N J Samani5,
  8. P Deloukas3,
  9. T D Spector1
  1. 1
    Department of Twin Research and Genetic Epidemiology, King’s College London, London, UK
  2. 2
    Department of Medicine, Jewish General Hospital, Faculty of Medicine, McGill University, Montréal, Québec, Canada
  3. 3
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK
  4. 4
    Centre of Human Development and Aging, New Jersey Medical School, Newark, New Jersey, USA
  5. 5
    Department of Cardiovascular Sciences, University of Leicester, Leicester, UK
  1. Professor T D Spector, Department of Twin Research & Genetic Epidemiology, King’s College London, St Thomas’ Hospital Campus, Lambeth Palace Road, London SE1 7EH, UK; tim.spector{at}
  • Received 18 November 2008
  • Revised 18 January 2009
  • Accepted 6 February 2009
  • Published Online First 8 April 2009


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 = 2.6×10−6; and rs7235755, p = 5.5×10−6) 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.


  • MM and JBR contributed equally to this work

  • Funding: This study was funded in part by: the Wellcome Trust; NIHR (TDS), NIHR Biomedical Research Centre (grant to Guys’ and St. Thomas’ Hospitals and King’s College London)

  • Competing interests: None declared.