Mapping of a Major Locus that Determines Telomere Length in Humans
Open accessAbstract
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.
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Mean TL shows considerable inter-individual variability and has high heritability with estimates varying between 44-80%.
“Mean TL shows considerable inter-individual variability and has high heritability with estimates varying between 44–80%7–9.”
From Identification of seven loci affecting mean telomere length and their association with disease (2013) · cites this paper as [9]
In cross-sectional population studies, mean LTL is longer in women than in men and is inversely associated with age, declining by between 20-40 base pairs per year.
“In cross-sectional population studies mean LTL is longer in women than in men and is inversely associated with age (declining by between 20–40 base-pairs (bp) per year)9, 12–14.”
From Identification of seven loci affecting mean telomere length and their association with disease (2013) · cites this paper as [9]
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References 26 · Cited by 257
- Authors
- Vasa-Nicotera, M., Brouilette, S., Mangino, M., Thompson, J. R., Braund, P., Clemitson, J.-R., Mason, A., Bodycote, C. L., Raleigh, S. M., Louis, E., & Samani, N. J.
- Affiliations
- University of Leicester (GB)
- Corresponding author
- Samani, Nilesh J.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2005-01
- Volume
- 76
- Issue
- 1
- Pages
- 147-151
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC1196417
- OpenAlex
- W2059383813
- Cited by
- 257
- References
- 26
- Citations by year
- 2026: 1 · 2025: 3 · 2024: 4 · 2023: 2 · 2022: 9 · 2021: 10 · 2020: 5 · 2019: 7 · 2018: 14 · 2017: 13 · 2016: 16 · 2015: 16 · 2014: 18 · 2013: 17 · 2012: 19
- FWCI
- 6.78
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Leicester Research Archive (University of Leicester) (submittedVersion)
- Pure (Coventry University) (submittedVersion, other-oa)
- Funders
- British Heart Foundation
- Sir Jules Thorn Charitable Trust
- Topics
- Health Sciences › Medicine › Physiology › Telomeres, Telomerase, and Senescence
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Aging › Genetics, Aging, and Longevity in Model Organisms
- Keywords
- telomere length, telomere restriction fragments, chromosome 12, DDX11, DNA helicase, heritability, leukocyte telomeres, cellular senescence
- MeSH terms
- Adolescent, Adult, Aged, Chromosome Mapping, Chromosomes, Human, Pair 12, Coronary Disease, DNA Helicases, Female, Humans, Leukocytes, Lod Score, Male, Middle Aged, Ultrasonography, Telomere, Microsatellite Repeats, Quantitative Trait Loci, DEAD-box RNA Helicases
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