J Med Genet. Published Online First: 8 April 2009. 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
1 Department of Twin Research and Genetic Epidemiology, King's College London, London, United Kingdom
2 Department of Medicine, McGill University, Canada
3 Center of Human Development and Aging, New Jersey Medical School, United States
4 Department of Cardiovascular Sciences, University of Leicester, Leicester, United Kingdom
5 Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, United Kingdom
* To whom correspondence should be addressed. E-mail: massimo.mangino{at}kcl.ac.uk.
Accepted 6 February 2009
Abstract
Telomere length is a predictor for a number of common age-related diseases and is a heritable trait. To identify new loci associated with mean leukocyte telomere length we conducted a genome wide association study of 314,075 SNPs and validated the results in a second cohort (n for both cohorts combined= 2,790). We identified two novel associated variants (rs2162440; p-value=2.6x10-6 and rs7235755; p-value=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. These results provide new insights into the pathways regulating telomere homeostasis in humans.
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