2026-06-14T03:29:11Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/75852025-04-23T11:29:08Zcom_20.500.12105_2052com_20.500.12105_2051col_20.500.12105_19608

00925njm 22002777a 4500 dc Li, Jingmei author Foo, Jia Nee author Schoof, Nils author Varghese, Jajini S author Fernandez-Navarro, Pablo L author Gierach, Gretchen L author Quek, Swee Tian author Hartman, Mikael author Nord, Silje author Kristensen, Vessela N author Pollan-Santamaria, Marina author Figueroa, Jonine D author Thompson, Deborah J author Li, Yi author Khor, Chiea-Chuen author Humphreys, Keith author Liu, Jianjun author Czene, Kamila author Hall, Per author 2013-10 BACKGROUND: 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. J Med Genet. 2013 Oct;50(10):666-73. 10.1136/jmedgenet-2013-101708 1468-6244 0022-2593 Journal of medical genetics https://pmc.ncbi.nlm.nih.gov/articles/PMC4159740/ 23825393 http://hdl.handle.net/20.500.12105/7585 Cancer: breast Complex traits Epidemiology Genetic epidemiology Genome-wide Large-scale genotyping identifies a new locus at 22q13.2 associated with female breast size