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 Percent mammographic density. The EFO term breast carcinoma 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: breast carcinoma

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

KN Stevens, S Lindstrom, CG Scott, D Thompson, TA Sellers, X Wang, A Wang, E Atkinson, DN Rider, JE Eckel-Passow, JS Varghese, T Audley, J Brown, J Leyland, RN Luben, RM Warren, RJ Loos, NJ Wareham, J Li, P Hall, J Liu, L Eriksson, K Czene, JE Olson, VS Pankratz, Z Fredericksen, RB Diasio, AM Lee, JA Heit, M DeAndrade, EL Goode, RA Vierkant, JM Cunningham, SM Armasu, R Weinshilboum, BL Fridley, A Batzler, JN Ingle, NF Boyd, AD Paterson, J Rommens, LJ Martin, JL Hopper, MC Southey, J Stone, C Apicella, P Kraft, SE Hankinson, A Hazra, DJ Hunter, DF Easton, FJ Couch, RM Tamimi, CM Vachon

TITLE:

Identification of a novel percent mammographic density locus at 12q24.

JOURNAL:

Human molecular genetics Jul 2012, Vol 21, pp. 3299-305

ABSTRACT:

Percent mammographic density adjusted for age and body mass index (BMI) is one of the strongest risk factors for breast cancer and has a heritable component that remains largely unidentified. We performed a three-stage genome-wide association study (GWAS) of percent mammographic density to identify novel genetic loci associated with this trait. In stage 1, we combined three GWASs of percent density comprised of 1241 women from studies at the Mayo Clinic and identified the top 48 loci (99 single nucleotide polymorphisms). We attempted replication of these loci in 7018 women from seven additional studies (stage 2). The meta-analysis of stage 1 and 2 data identified a novel locus, rs1265507 on 12q24, associated with percent density, adjusting for age and BMI (P = 4.43 × 10(-8)). We refined the 12q24 locus with 459 additional variants (stage 3) in a combined analysis of all three stages (n = 10 377) and confirmed that rs1265507 has the strongest association in the 12q24 region (P = 1.03 × 10(-8)). Rs1265507 is located between the genes TBX5 and TBX3, which are members of the phylogenetically conserved T-box gene family and encode transcription factors involved in developmental regulation. Understanding the mechanism underlying this association will provide insight into the genetics of breast tissue composition. PUBMED: 22532574
Find other GeneSets from this publication