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    J Med Genet. 2009 Jul;46(7):451-4. doi: 10.1136/jmg.2008.064956. Epub 2009 Apr 8.

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

    Mangino M, Richards JB, Soranzo N, Zhai G, Aviv A, Valdes AM, Samani NJ, Deloukas P, Spector TD.

    Source

    Department of Twin Research & Genetic Epidemiology, King's College London, London, 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 = 2.6 x 10(-6); and rs7235755, p = 5.5 x 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.

    PMID:
    19359265
    [PubMed - indexed for MEDLINE]
    PMCID:
    PMC2696823
    Free PMC Article

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