DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Mammographic density (dense area). The EFO term dense area measurement, mammographic density measurement was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: dense area measurement, mammographic density measurement

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

S Lindström, DJ Thompson, AD Paterson, J Li, GL Gierach, C Scott, J Stone, JA Douglas, I dos-Santos-Silva, P Fernandez-Navarro, J Verghase, P Smith, J Brown, R Luben, NJ Wareham, RJ Loos, JA Heit, VS Pankratz, A Norman, EL Goode, JM Cunningham, M deAndrade, RA Vierkant, K Czene, PA Fasching, L Baglietto, MC Southey, GG Giles, KP Shah, HP Chan, MA Helvie, AH Beck, NW Knoblauch, A Hazra, DJ Hunter, P Kraft, M Pollan, JD Figueroa, FJ Couch, JL Hopper, P Hall, DF Easton, NF Boyd, CM Vachon, RM Tamimi

TITLE:

Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.

JOURNAL:

Nature communications Oct 2014, Vol 5, pp. 5303

ABSTRACT:

Mammographic density reflects the amount of stromal and epithelial tissues in relation to adipose tissue in the breast and is a strong risk factor for breast cancer. Here we report the results from meta-analysis of genome-wide association studies (GWAS) of three mammographic density phenotypes: dense area, non-dense area and percent density in up to 7,916 women in stage 1 and an additional 10,379 women in stage 2. We identify genome-wide significant (P<5 × 10(-8)) loci for dense area (AREG, ESR1, ZNF365, LSP1/TNNT3, IGF1, TMEM184B and SGSM3/MKL1), non-dense area (8p11.23) and percent density (PRDM6, 8p11.23 and TMEM184B). Four of these regions are known breast cancer susceptibility loci, and four additional regions were found to be associated with breast cancer (P<0.05) in a large meta-analysis. These results provide further evidence of a shared genetic basis between mammographic density and breast cancer and illustrate the power of studying intermediate quantitative phenotypes to identify putative disease-susceptibility loci. PUBMED: 25342443
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