A genome-wide association study identifies a novel locus on chromosome 18q12.2 influencing white cell telomere length
OPEN ACCESS- M Mangino1,
- J B Richards1,2,
- N Soranzo1,3,
- G Zhai1,
- A Aviv4,
- A M Valdes1,
- N J Samani5,
- P Deloukas3,
- T D Spector1
- 1Department of Twin Research and Genetic Epidemiology, King’s College London, London, UK
- 2Department of Medicine, Jewish General Hospital, Faculty of Medicine, McGill University, Montréal, Québec, Canada
- 3Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK
- 4Centre of Human Development and Aging, New Jersey Medical School, Newark, New Jersey, USA
- 5Department of Cardiovascular Sciences, University of Leicester, Leicester, UK
- 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}kcl.ac.uk
- Received 18 November 2008
- Revised 18 January 2009
- Accepted 6 February 2009
- Published Online First 8 April 2009
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 = 2.6×10−6; 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.
Footnotes
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MM and JBR contributed equally to this work
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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)
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Competing interests: None declared.
