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A genome-wide association study identifies a novel locus on chromosome 18q12.2 influencing white cell telomere length
  1. Massimo Mangino (massimo.mangino{at}kcl.ac.uk)
  1. Department of Twin Research and Genetic Epidemiology, King's College London, London, United Kingdom
    1. J Brent Richards (brent.richards{at}mcgill.ca)
    1. Department of Medicine, McGill University, Canada
      1. Nicole Soranzo (ns6{at}sanger.ac.uk)
      1. Department of Twin Research and Genetic Epidemiology, King's College London, London, United Kingdom
        1. Guangju Zhai (guangju.zhai{at}kcl.ac.uk)
        1. Department of Twin Research and Genetic Epidemiology, King's College London, London, United Kingdom
          1. Abraham Aviv (aviva{at}umdnj.edu)
          1. Center of Human Development and Aging, New Jersey Medical School, United States
            1. Ana M Valdes (ana.valdes{at}kcl.ac.uk)
            1. Department of Twin Research and Genetic Epidemiology, King's College London, London, United Kingdom
              1. Nilesh J Samani (njs{at}le.ac.uk)
              1. Department of Cardiovascular Sciences, University of Leicester, Leicester, United Kingdom
                1. Panos Deloukas (panos{at}sanger.ac.uk)
                1. Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, United Kingdom
                  1. Tim D Spector (tim.spector{at}kcl.ac.uk)
                  1. Department of Twin Research and Genetic Epidemiology, King's College London, London, United Kingdom

                    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=2.6×10-6 and rs7235755; p-value=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. These results provide new insights into the pathways regulating telomere homeostasis in humans.

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