Mapping of a major locus that determines telomere length in humans

Mariuca Vasa-Nicotera, Scott Brouilette, Massimo Mangino, John R Thompson, Peter Braund, Jenny-Rebecca Clemitson, Andrea Mason, Clare L Bodycote, Stuart M Raleigh, Edward Louis, Nilesh J Samani

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221 Citations (Scopus)


Telomere length is a crucial factor for both normal chromosomal function and senescence. Mean telomere length in humans shows considerable interindividual variation and strong genetic determination. To see if a locus (or loci) affecting telomere length in humans could be mapped, we performed a quantitative-trait linkage analysis of mean leukocyte telomere-restriction-fragment (TRF) lengths, measured by Southern blotting, in 383 adult subjects comprising 258 sib pairs. Heritability of mean (+/-SE) TRF was 81.9%+/-11.8%. There was significant linkage (LOD score 3.20) of mean TRF length to a locus on chromosome 12, which explained 49% of the overall variability in mean TRF length. We present preliminary analysis of a strong candidate gene in the region, the DNA helicase DDX11. In conclusion, we report mapping of the first locus that determines mean telomere length in humans. Identification of the gene involved and elucidation of its mechanism of action could have important implications for our understanding of chromosomal assembly, telomere biology, and susceptibility to age-related diseases.

Original languageEnglish
Pages (from-to)147-151
Number of pages5
JournalAmerican Journal of Human Genetics
Issue number1
Publication statusPublished - Jan 2005


  • Adolescent
  • Adult
  • Aged
  • Chromosome Mapping
  • Chromosomes, Human, Pair 12
  • Coronary Disease
  • DEAD-box RNA Helicases
  • DNA Helicases
  • Female
  • Humans
  • Leukocytes
  • Lod Score
  • Male
  • Microsatellite Repeats
  • Middle Aged
  • Quantitative Trait Loci
  • Telomere
  • Ultrasonography
  • Journal Article
  • Research Support, Non-U.S. Gov't


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