RT Journal Article
SR Electronic
T1 A genome-wide association study identifies a novel locus on chromosome 18q12.2 influencing white cell telomere length
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 451
OP 454
DO 10.1136/jmg.2008.064956
VO 46
IS 7
A1 M Mangino
A1 J B Richards
A1 N Soranzo
A1 G Zhai
A1 A Aviv
A1 A M Valdes
A1 N J Samani
A1 P Deloukas
A1 T D Spector
YR 2009
UL http://jmg.bmj.com/content/46/7/451.abstract
AB 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 = 2.6×10−6; and rs7235755, p = 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.Conclusion: These results provide new insights into the pathways regulating telomere homeostasis in humans.