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dc.contributor.authorBarrett, Jennifer Hen
dc.contributor.authorIles, Mark Men
dc.contributor.authorDunning, Alisonen
dc.contributor.authorPooley, Karenen
dc.date.accessioned2015-10-06T16:19:28Z
dc.date.available2015-10-06T16:19:28Z
dc.date.issued2015-05-19en
dc.identifier.citationBarrett et al. Human Genetics (2015), Vol. 134, Issue 7, pp. 679-689. doi: 10.1007/s00439-015-1563-4en
dc.identifier.issn0340-6717
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/251335
dc.description.abstractTelomeres, the repetitive sequences that protect the ends of chromosomes, help to maintain genomic integrity and are of key importance to human health. The aim here is to give an overview of the evidence for the importance of telomere length (TL) to the risk of common disease, considering the strengths and weaknesses of different epidemiological study designs. Methods for measuring TL are described, all of which are subject to considerable measurement error. TL declines with age and varies in relation to factors such as smoking and obesity. It is also highly heritable (estimated heritability of ~40 to 50 %), and genome-wide studies have identified a number of associated genetic variants. Epidemiological studies have shown shorter TL to be associated with risk of a number of common diseases, including cardiovascular disease and some cancers. The relationship with cancer appears complex, in that longer telomeres are associated with higher risk of some cancers. Prospective studies of the relationship between TL and disease, where TL is measured before diagnosis, have numerous advantages over retrospective studies, since they avoid the problems of reverse causality and differences in sample handling, but they are still subject to potential confounding. Studies of the genetic predictors of TL in relation to disease risk avoid these drawbacks, although they are not without limitations. Telomere biology is of major importance to the risk of common disease, but the complexities of the relationship are only now beginning to be understood.
dc.description.sponsorshipThis research was supported by Cancer Research UK Programme Awards C588/A10589 and C588/A19167 (MMI and JHB) and C8197/A16565 (AMD and KAP) and the Isaac Newton Trust.
dc.languageEnglishen
dc.language.isoenen
dc.publisherSpringer
dc.rightsAttribution 2.0 UK: England & Wales*
dc.rights.urihttp://creativecommons.org/licenses/by/2.0/uk/*
dc.titleTelomere length and common disease: study design and analytical challengesen
dc.typeArticle
dc.description.versionThis is the final version of the article. It first appeared from Springer via http://dx.doi.org/10.1007/s00439-015-1563-4en
prism.endingPage689
prism.publicationDate2015en
prism.publicationNameHuman Geneticsen
prism.startingPage679
prism.volume134en
dc.rioxxterms.funderCRUK
dc.rioxxterms.projectidC588/A10589
dc.rioxxterms.projectidC588/A19167
dc.rioxxterms.projectidC8197/A16565
dcterms.dateAccepted2015-05-04en
rioxxterms.versionofrecord10.1007/s00439-015-1563-4en
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserveden
rioxxterms.licenseref.startdate2015-05-19en
dc.contributor.orcidDunning, Alison [0000-0001-6651-7166]
dc.contributor.orcidPooley, Karen [0000-0002-1274-9460]
dc.identifier.eissn1432-1203
rioxxterms.typeJournal Article/Reviewen


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Attribution 2.0 UK: England & Wales
Except where otherwise noted, this item's licence is described as Attribution 2.0 UK: England & Wales