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

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.