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

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.