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dc.contributor.authorZGAGA, LINAen
dc.date.accessioned2016-01-06T15:23:55Z
dc.date.available2016-01-06T15:23:55Z
dc.date.issued2014en
dc.date.submitted2014en
dc.identifier.citationPerry JR, Hsu YH, Chasman DI, Johnson AD, Elks C, Albrecht E, Andrulis IL, Beesley J, Berenson GS, Bergmann S, Bojesen SE, Bolla MK, Brown J, Buring JE, Campbell H, et al., DNA mismatch repair gene MSH6 implicated in determining age at natural menopause., Human Molecular Genetics, Epub ahead of print, 2014en
dc.identifier.otherYen
dc.identifier.urihttp://hdl.handle.net/2262/75427
dc.descriptionPUBLISHEDen
dc.descriptionEpub ahead of printen
dc.description.abstractThe length of female reproductive lifespan is associated with multiple adverse outcomes, including breast cancer, cardiovascular disease and infertility. The biological processes that govern the timing of the beginning and end of reproductive life are not well understood. Genetic variants are known to contribute to ∼50% of the variation in both age at menarche and menopause, but to date the known genes explain <15% of the genetic component. We have used genome-wide association in a bivariate meta-analysis of both traits to identify genes involved in determining reproductive lifespan. We observed significant genetic correlation between the two traits using genome-wide complex trait analysis. However, we found no robust statistical evidence for individual variants with an effect on both traits. A novel association with age at menopause was detected for a variant rs1800932 in the mismatch repair gene MSH6 (P = 1.9 × 10(-9)), which was also associated with altered expression levels of MSH6 mRNA in multiple tissues. This study contributes to the growing evidence that DNA repair processes play a key role in ovarian ageing and could be an important therapeutic target for infertility.en
dc.relation.ispartofseriesHuman Molecular Geneticsen
dc.relation.ispartofseriesEpub ahead of printen
dc.rightsYen
dc.subjectInfertilityen
dc.titleDNA mismatch repair gene MSH6 implicated in determining age at natural menopause.en
dc.typeJournal Articleen
dc.type.supercollectionscholarly_publicationsen
dc.type.supercollectionrefereed_publicationsen
dc.identifier.peoplefinderurlhttp://people.tcd.ie/zgagalen
dc.identifier.rssinternalid90597en
dc.identifier.doihttp://dx.doi.org/10.1093/hmg/ddt620.en
dc.rights.ecaccessrightsopenAccess
dc.identifier.orcid_id0000-0003-4089-9703en


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