Large-scale genotyping identifies a new locus at 22q13.2 associated with female breast size

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 m...

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Detalles Bibliográficos
Autores: Li, Jingmei, Foo, Jia Nee, Schoof, Nils, Varghese, Jajini S, Fernandez-Navarro, Pablo L, Gierach, Gretchen L, Quek, Swee Tian, Hartman, Mikael, Nord, Silje, Kristensen, Vessela N, Pollan-Santamaria, Marina, Figueroa, Jonine D, Thompson, Deborah J, Li, Yi, Khor, Chiea-Chuen, Humphreys, Keith, Liu, Jianjun, Czene, Kamila, Hall, Per
Tipo de recurso: artículo
Fecha de publicación:2013
País:España
Institución:Instituto de Salud Carlos III (ISCIII)
Repositorio:Repisalud
Idioma:inglés
OAI Identifier:oai:repisalud.isciii.es:20.500.12105/7585
Acceso en línea:http://hdl.handle.net/20.500.12105/7585
Access Level:acceso abierto
Palabra clave:Chromosomes, Human, Pair 8
Female
Humans
Mammary Glands, Human
Mammography
Organelle Size
Polymorphism, Single Nucleotide
Chromosomes, Human, Pair 22
Genome-Wide Association Study
Quantitative Trait Loci
Descripción
Sumario: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.

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