Please use this identifier to cite or link to this item:
Title: Large-scale genotyping identifies a new locus at 22q13.2 associated with female breast size
Authors: Li, J.
Foo, J.N.
Schoof, N.
Varghese, J.S.
Fernandez-Navarro, P.
Gierach, G.L.
Quek, S.T.
Hartman, M. 
Nord, S.
Kristensen, V.N.
Pollán, M.
Figueroa, J.D.
Thompson, D.J.
Li, Y.
Khor, C.C.
Humphreys, K.
Liu, J. 
Czene, K.
Hall, P.
Issue Date: 2013
Citation: Li, J., Foo, J.N., Schoof, N., Varghese, J.S., Fernandez-Navarro, P., Gierach, G.L., Quek, S.T., Hartman, M., Nord, S., Kristensen, V.N., Pollán, M., Figueroa, J.D., Thompson, D.J., Li, Y., Khor, C.C., Humphreys, K., Liu, J., Czene, K., Hall, P. (2013). Large-scale genotyping identifies a new locus at 22q13.2 associated with female breast size. Journal of Medical Genetics 50 (10) : 666-673. ScholarBank@NUS Repository.
Abstract: 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 (mm2) 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.
Source Title: Journal of Medical Genetics
ISSN: 00222593
DOI: 10.1136/jmedgenet-2013-101708
Appears in Collections:Staff Publications

Show full item record
Files in This Item:
There are no files associated with this item.


checked on Oct 11, 2019


checked on Jul 3, 2019

Page view(s)

checked on Oct 11, 2019

Google ScholarTM



Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.