A genome-wide association study identifies a locus on TERT for mean telomere length in Han Chinese

PLoS One. 2014 Jan 21;9(1):e85043. doi: 10.1371/journal.pone.0085043. eCollection 2014.


Leukocyte telomere length (LTL) is a predictor of aging and a number of age-related diseases. We performed genome-wide association studies of mean LTL in 2632 individuals,with a two-stage replication in 3917 individuals from Chinese populations. To further validate our findings, we get the results of 696 samples from a cohort of European ancestry. We identified two loci associated with LTL that map in telomerase reverse transcriptase (TERT; rs2736100, P = 1.93×10(-5)) on chromosome 5p15.33 and near keratin 80 (KRT80; rs17653722, P = 6.96×10(-6)) on 12q13.13. In Chinese population each C allele of rs2736100 and T allele of rs17653722 was associated with a longer mean telomere length of 0.026 and 0.059 T/S, respectively, equivalent to about 3 and 7 years of average age-related telomere attrition. Our findings provide new insights into telomere regulatory mechanism and even pathogenesis of age-related diseases.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age Factors
  • Alleles
  • Asian People*
  • Chromosomes, Human, Pair 5 / chemistry
  • Genetic Loci*
  • Genome-Wide Association Study
  • Humans
  • Keratins / genetics
  • Leukocytes / cytology
  • Leukocytes / metabolism
  • Telomerase / genetics*
  • Telomere Homeostasis*
  • Telomere*
  • White People


  • Keratins
  • TERT protein, human
  • Telomerase

Grants and funding

This work was supported by the Natural Science Foundation of China (81130022, 81272302, 31000553, 81121001); the National 863 project (2012AA02A515); the 973 Program (2010CB529600); Program for Changjiang Scholars and Innovative Research Team in University (IRT1025); the Foundation for the Author of National Excellent Doctoral Dissertation of China (201026); Shanghai Rising-Star Program (12QA1401900); “Shu Guang” project supported by Shanghai Municipal Education Commission and Shanghai Education Development Foundation (12SG17); and start-up fund (WL) from the Department of Medicinal Chemistry and Molecular Pharmacology, Purdue University. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.