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 Breast cancer. 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:

Q Cai, B Zhang, H Sung, SK Low, SS Kweon, W Lu, J Shi, J Long, W Wen, JY Choi, DY Noh, CY Shen, K Matsuo, SH Teo, MK Kim, US Khoo, M Iwasaki, M Hartman, A Takahashi, K Ashikawa, K Matsuda, MH Shin, MH Park, Y Zheng, YB Xiang, BT Ji, SK Park, PE Wu, CN Hsiung, H Ito, Y Kasuga, P Kang, S Mariapun, SH Ahn, HS Kang, KY Chan, EP Man, H Iwata, S Tsugane, H Miao, J Liao, Y Nakamura, M Kubo, RJ Delahanty, Y Zhang, B Li, C Li, YT Gao, XO Shu, D Kang, W Zheng

TITLE:

Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1.

JOURNAL:

Nature genetics Aug 2014, Vol 46, pp. 886-90

ABSTRACT:

In a three-stage genome-wide association study among East Asian women including 22,780 cases and 24,181 controls, we identified 3 genetic loci newly associated with breast cancer risk, including rs4951011 at 1q32.1 (in intron 2 of the ZC3H11A gene; P=8.82×10(-9)), rs10474352 at 5q14.3 (near the ARRDC3 gene; P=1.67×10(-9)) and rs2290203 at 15q26.1 (in intron 14 of the PRC1 gene; P=4.25×10(-8)). We replicated these associations in 16,003 cases and 41,335 controls of European ancestry (P=0.030, 0.004 and 0.010, respectively). Data from the ENCODE Project suggest that variants rs4951011 and rs10474352 might be located in an enhancer region and transcription factor binding sites, respectively. This study provides additional insights into the genetics and biology of breast cancer. PUBMED: 25038754
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