SynthesisJournal of medical genetics2013
Large-scale genotyping identifies a new locus at 22q13.2 associated with female breast size.
Synthesis in Journal of medical genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
6 citing papers in PubMed, 12 citations in OpenAlex.
- Look how far we have come: BREAST cancer detection education on the international stage.Frontiers in oncology · 2022Review
- Chest Feminization in Male-to-Female Transgender Patients: A Review of Options.Transgender health · 2021Review
- Common genetic variation and novel loci associated with volumetric mammographic density.Breast cancer research : BCR · 2018Article
- Determinants of breast size in Asian women.Scientific reports · 2018Article
- Can the breast screening appointment be used to provide risk assessment and prevention advice?Breast cancer research : BCR · 2015Article
- Novel Associations between Common Breast Cancer Susceptibility Variants and Risk-Predicting Mammographic Density Measures.Cancer research · 2015Article
Corrections and comments
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Authors and funding
19 authors at 7 institutions in 6 countries.
Funding
Abstract
backgroundIndividual 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.
methodsThe 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.
resultsWe 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.
conclusionsA new locus at 22q13 may be associated with female breast size.
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