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

M. Mangino; J. B. Richards; N. Soranzo; G. Zhai; A. Aviv; A. M. Valdes; N. J. Samani; P. Deloukas; T. D. Spector

doi:10.1136/jmg.2008.064956

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

M. Mangino, J. B. Richards, N. Soranzo, G. Zhai, A. Aviv, A. M. Valdes, N. J. Samani, P. Deloukas, T. D. Spector

Research output: Contribution to journal › Article › peer-review

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Abstract

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 = 2.6x10(-6); and rs7235755, p = 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. Conclusion: These results provide new insights into the pathways regulating telomere homeostasis in humans.

Original language	English
Pages (from-to)	451 - 454
Number of pages	4
Journal	Journal of Medical Genetics
Volume	46
Issue number	7
DOIs	https://doi.org/10.1136/jmg.2008.064956
Publication status	Published - Jul 2009

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

abstract = "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 = 2.6x10(-6); and rs7235755, p = 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. Conclusion: These results provide new insights into the pathways regulating telomere homeostasis in humans.",

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language = "English",

volume = "46",

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TY - JOUR

T1 - A genome-wide association study identifies a novel locus on chromosome 18q12.2 influencing white cell telomere length

AU - Mangino, M.

AU - Richards, J. B.

AU - Soranzo, N.

AU - Zhai, G.

AU - Aviv, A.

AU - Valdes, A. M.

AU - Samani, N. J.

AU - Deloukas, P.

AU - Spector, T. D.

PY - 2009/7

Y1 - 2009/7

N2 - 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 = 2.6x10(-6); and rs7235755, p = 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. Conclusion: These results provide new insights into the pathways regulating telomere homeostasis in humans.

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 = 2.6x10(-6); and rs7235755, p = 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. Conclusion: These results provide new insights into the pathways regulating telomere homeostasis in humans.

U2 - 10.1136/jmg.2008.064956

DO - 10.1136/jmg.2008.064956

M3 - Article

SN - 1468-6244

VL - 46

SP - 451

EP - 454

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 7

ER -

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

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