Mostrar el registro sencillo del ítem

dc.contributor.authorLi, Jingmei
dc.contributor.authorFoo, Jia Nee
dc.contributor.authorSchoof, Nils
dc.contributor.authorVarghese, Jajini S
dc.contributor.authorFernandez-Navarro, Pablo L 
dc.contributor.authorGierach, Gretchen L
dc.contributor.authorQuek, Swee Tian
dc.contributor.authorHartman, Mikael
dc.contributor.authorNord, Silje
dc.contributor.authorKristensen, Vessela N
dc.contributor.authorPollan-Santamaria, Marina 
dc.contributor.authorFigueroa, Jonine D
dc.contributor.authorThompson, Deborah J
dc.contributor.authorLi, Yi
dc.contributor.authorKhor, Chiea Chuen
dc.contributor.authorHumphreys, Keith
dc.contributor.authorLiu, Jianjun
dc.contributor.authorCzene, Kamila
dc.contributor.authorHall, Per
dc.date.accessioned2019-05-17T10:07:44Z
dc.date.available2019-05-17T10:07:44Z
dc.date.issued2013-10
dc.identifier.citationJ Med Genet. 2013 Oct;50(10):666-73.es_ES
dc.identifier.issn0022-2593es_ES
dc.identifier.urihttp://hdl.handle.net/20.500.12105/7585
dc.description.abstractBACKGROUND: Individual differences in breast size are a conspicuous feature of variation in human females and have been associated with fecundity and advantage in selection of mates. To identify common variants that are associated with breast size, we conducted a large-scale genotyping association meta-analysis in 7169 women of European descent across three independent sample collections with digital or screen film mammograms. METHODS: The samples consisted of the Swedish KARMA, LIBRO-1 and SASBAC studies genotyped on iCOGS, a custom illumina iSelect genotyping array comprising of 211 155 single nucleotide polymorphisms (SNPs) designed for replication and fine mapping of common and rare variants with relevance to breast, ovary and prostate cancer. Breast size of each subject was ascertained by measuring total breast area (mm(2)) on a mammogram. RESULTS: We confirm genome-wide significant associations at 8p11.23 (rs10086016, p=1.3×10(-14)) and report a new locus at 22q13 (rs5995871, p=3.2×10(-8)). The latter region contains the MKL1 gene, which has been shown to impact endogenous oestrogen receptor α transcriptional activity and is recruited on oestradiol sensitive genes. We also replicated previous genome-wide association study findings for breast size at four other loci. CONCLUSIONS: A new locus at 22q13 may be associated with female breast size.es_ES
dc.description.sponsorshipKARMA and LIBRO-1 were supported by Märit and Hans Rausings Initiative Against Breast Cancer. SASBAC was supported by funding from the Agency for Science, Technology and Research of Singapore (A*STAR), the US National Institute of Health (NIH) and the Susan G. Komen Breast Cancer Foundation. All three studies are genotyped as part of the Collaborative Oncological Gene-environment Study (COGS), which is supported by the European Community's Seventh Framework Programme under grant agreement 223175 (HEALTH-F2-2009-223175) (COGS). Genotyping of the iCOGS array was funded by the European Union (HEALTH-F2-2009-223175), Cancer Research UK (C1287/A10710), the Canadian Institutes of Health Research (CIHR) for the CIHR Team in Familial Risks of Breast Cancer program and the Ministry of Economic Development, Innovation and Export Trade of Quebec (grant PSR-SIIRI-701). BCAC is funded by Cancer Research UK (C1287/A10118 and C1287/A12014). Combining the GWAS data was supported in part by the US National Institutes of Health (NIH) Cancer Post-Cancer GWAS initiative grant 1 U19 CA 148065-01 (DRIVE, part of the GAME-ON initiative). KC was financed by the Swedish Cancer Society (5128-B07-01PAF). KH was supported by the Swedish Research Council (523-2006-972) and the Swedish E Science Research Centre. This work was also supported, in part, by the Intramural Research Program of the U.S. National Cancer Institute, Department of Health and Human Services, USA. We wish to thank Aki Tuuliainen, Kimberley Sio Kim Chua, Sander Canisius, Grethe I.G. Alnæs, Torben Luders and Lodewyk Wessels for their help in data collection and analysises_ES
dc.language.isoenges_ES
dc.publisherBMJ Publishing Group es_ES
dc.type.hasVersionSMURes_ES
dc.rights.urihttp://creativecommons.org/licenses/by-nc-sa/4.0/*
dc.subjectCancer: breastes_ES
dc.subjectComplex traitses_ES
dc.subjectEpidemiologyes_ES
dc.subjectGenetic epidemiologyes_ES
dc.subjectGenome-widees_ES
dc.subject.meshChromosomes, Human, Pair 8 es_ES
dc.subject.meshFemale es_ES
dc.subject.meshHumans es_ES
dc.subject.meshMammary Glands, Human es_ES
dc.subject.meshMammography es_ES
dc.subject.meshOrganelle Size es_ES
dc.subject.meshPolymorphism, Single Nucleotidees_ES
dc.subject.meshChromosomes, Human, Pair 22 es_ES
dc.subject.meshGenome-Wide Association Study es_ES
dc.subject.meshQuantitative Trait Loci es_ES
dc.titleLarge-scale genotyping identifies a new locus at 22q13.2 associated with female breast sizees_ES
dc.typejournal articlees_ES
dc.rights.licenseAtribución-NoComercial-CompartirIgual 4.0 Internacional*
dc.identifier.pubmedID23825393es_ES
dc.format.volume50es_ES
dc.format.number10es_ES
dc.format.page666-73es_ES
dc.identifier.doi10.1136/jmedgenet-2013-101708es_ES
dc.contributor.funderUnión Europea 
dc.description.peerreviewedes_ES
dc.identifier.e-issn1468-6244es_ES
dc.relation.publisherversionhttps://doi.org/10.1136/jmedgenet-2013-101708es_ES
dc.identifier.journalJournal of medical geneticses_ES
dc.repisalud.centroISCIII::Centro Nacional de Epidemiologíaes_ES
dc.repisalud.institucionISCIIIes_ES
dc.relation.projectIDinfo:eu-repo/grantAgreement/EC/FP7/223175/EUes_ES
dc.rights.accessRightsopen accesses_ES


Ficheros en el ítem

Acceso Abierto
Thumbnail

Este ítem aparece en la(s) siguiente(s) colección(ones)

Mostrar el registro sencillo del ítem

Atribución-NoComercial-CompartirIgual 4.0 Internacional
Este Item está sujeto a una licencia Creative Commons: Atribución-NoComercial-CompartirIgual 4.0 Internacional