RT Journal Article
SR Electronic
T1 Large-scale genotyping identifies a new locus at 22q13.2 associated with female breast size
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 666
OP 673
DO 10.1136/jmedgenet-2013-101708
VO 50
IS 10
A1 Jingmei Li
A1 Jia Nee Foo
A1 Nils Schoof
A1 Jajini S Varghese
A1 Pablo Fernandez-Navarro
A1 Gretchen L Gierach
A1 Swee Tian Quek
A1 Mikael Hartman
A1 Silje Nord
A1 Vessela N Kristensen
A1 Marina Pollán
A1 Jonine D Figueroa
A1 Deborah J Thompson
A1 Yi Li
A1 Chiea Chuen Khor
A1 Keith Humphreys
A1 Jianjun Liu
A1 Kamila Czene
A1 Per Hall
YR 2013
UL http://jmg.bmj.com/content/50/10/666.abstract
AB 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.