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

Massimo Mangino (1) , J Brent Richards (2) , Nicole Soranzo (1) , Guangju Zhai (1) , Abraham Aviv (3) , Ana M Valdes (1) , Nilesh J Samani (4) , Panos Deloukas (5) , Tim D Spector (1)

1 King‘s College London
2 Department of Medecine [Montréal]
3 Center of Human Development and Aging, New Jersey Medical School
4 Department of Cardiovascular Sciences [Leicester]
5 The Wellcome Trust Sanger Institute [Cambridge]

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=2.6×10 and rs7235755; p-value=5.5×10) on chromosome 18q12.2 in the same region as the 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.

Mots clés: Molecular genetics

Massimo Mangino, J Brent Richards, Nicole Soranzo, Guangju Zhai, Abraham Aviv, et al.. A genome-wide association study identifies a novel locus on chromosome 18q12.2 influencing white cell telomere length. Journal of Medical Genetics, 2009, 46 (7), pp.451. ⟨10.1136/jmg.2008.064956⟩. ⟨hal-00552680⟩