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.


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.


CONCLUSIONS
These results provide new insights into the pathways regulating telomere homeostasis in humans.
Mangino
M
M
Department of Twin Research & Genetic Epidemiology, King's College London, London, UK.
Richards
J B
JB
Soranzo
N
N
Zhai
G
G
Aviv
A
A
Valdes
A M
AM
Samani
N J
NJ
Deloukas
P
P
Spector
T D
TD
D002887:Chromosomes, Human, Pair 18; D015331:Cohort Studies; D003627:Data Interpretation, Statistical; D005260:Female; D015894:Genome, Human; D055106:Genome-Wide Association Study / Q000379:methods*; D006801:Humans; D007962:Leukocytes / Q000378:metabolism / Q000648:ultrastructure*; D008297:Male; D020641:Polymorphism, Single Nucleotide; D015203:Reproducibility of Results; D012737:Sex Factors; D016615:Telomere / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D014427:Twins