Telomere length measurement as a clinical biomarker of aging and disease

Crit Rev Clin Lab Sci. 2018 Nov;55(7):443-465. doi: 10.1080/10408363.2018.1504274. Epub 2018 Sep 28.


Telomere length measurement is increasingly recognized as a clinical gauge for age-related disease risk. There are several methods for studying blood telomere length (BTL) as a clinical biomarker. The first is an observational study approach, which directly measures telomere lengths using either cross-sectional or longitudinal patient cohorts and compares them to a population of age- and sex-matched individuals. These direct traceable measurements can be considered reflective of an individual's current health or disease state. Escalating interest in personalized medicine, access to high-throughput genotyping and resulting acquisition of large volumes of genetic data corroborates the second method, Mendelian randomization (MR). MR employs telomere length-associated genetic variants to indicate predisposition to disease risk based on the genomic composition of the individual. When assessed from cells in the bloodstream, telomeres can show variation from their genetically predisposed lengths due to environmental-induced changes. These alterations in telomere length act as an indicator of cellular health, which, in turn, can provide disease risk status. Overall, BTL measurement is a dynamic marker of biological health and well-being that together with genetically defined telomere lengths can provide insights into improved healthcare for the individual.

Keywords: Leukocyte; Mendelian randomization; age-related disease; all-cause mortality; cardiovascular disease; observational studies; telomere length.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Aging / genetics*
  • Cardiovascular Diseases* / diagnosis
  • Cardiovascular Diseases* / epidemiology
  • Cardiovascular Diseases* / genetics
  • Female
  • Genetic Markers / genetics*
  • Humans
  • Male
  • Mendelian Randomization Analysis
  • Middle Aged
  • Observational Studies as Topic
  • Telomere / genetics*
  • Young Adult


  • Genetic Markers