A genome-wide association study identifies a novel locus on chromosome 18q12.2 influencing white cell telomere length
| Autor: | Abraham Aviv, Massimo Mangino, Nilesh J. Samani, Nicole Soranzo, Tim D. Spector, Guangju Zhai, Ana M. Valdes, J. B. Richards, Panagiotis Deloukas |
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| Přispěvatelé: | Department of Twin Research and Genetic Epidemiology, King's College London, London, Department of Medecine [Montréal], McGill University = Université McGill [Montréal, Canada], Center of Human Development and Aging, New Jersey Medical School, Rutgers New Jersey Medical School (NJMS), Rutgers University System (Rutgers)-Rutgers University System (Rutgers), Department of Cardiovascular Sciences [Leicester], University of Leicester, The Wellcome Trust Sanger Institute [Cambridge] |
| Rok vydání: | 2009 |
| Předmět: |
Male
Twins Single-nucleotide polymorphism Locus (genetics) Genome-wide association study Biology Polymorphism Single Nucleotide Genome Cohort Studies 03 medical and health sciences Sex Factors 0302 clinical medicine Telomere Homeostasis Short Reports Leukocytes Genetics Humans Molecular genetics Gene Genetics (clinical) 030304 developmental biology 0303 health sciences Genome Human Reproducibility of Results Telomere Data Interpretation Statistical 030220 oncology & carcinogenesis Female Human genome Chromosomes Human Pair 18 Genome-Wide Association Study |
| Zdroj: | Journal of Medical Genetics Journal of Medical Genetics, BMJ Publishing Group, 2009, 46 (7), pp.451. ⟨10.1136/jmg.2008.064956⟩ |
| ISSN: | 1468-6244 0022-2593 |
| DOI: | 10.1136/jmg.2008.064956 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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