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Published Online First: 8 April 2009. doi:10.1136/jmg.2008.064956
Journal of Medical Genetics 2009;46:451-454
Copyright © 2009 by the BMJ Publishing Group Ltd.

SHORT REPORTS

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

M Mangino1, J B Richards1,2, N Soranzo1,3, G Zhai1, A Aviv4, A M Valdes1, N J Samani5, P Deloukas3, T D Spector1

1 Department of Twin Research and Genetic Epidemiology, King’s College London, London, UK
2 Department of Medicine, Jewish General Hospital, Faculty of Medicine, McGill University, Montréal, Québec, Canada
3 Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK
4 Centre of Human Development and Aging, New Jersey Medical School, Newark, New Jersey, USA
5 Department 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

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 = 2.6x10–6; and rs7235755, p = 5.5x10–6) 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.


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