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 EGFR mutation-positive lung adenocarcinoma. The EFO term lung adenocarcinoma 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: lung adenocarcinoma

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

K Shiraishi, Y Okada, A Takahashi, Y Kamatani, Y Momozawa, K Ashikawa, H Kunitoh, S Matsumoto, A Takano, K Shimizu, A Goto, K Tsuta, S Watanabe, Y Ohe, Y Watanabe, Y Goto, H Nokihara, K Furuta, A Yoshida, K Goto, T Hishida, M Tsuboi, K Tsuchihara, Y Miyagi, H Nakayama, T Yokose, K Tanaka, T Nagashima, Y Ohtaki, D Maeda, K Imai, Y Minamiya, H Sakamoto, A Saito, Y Shimada, K Sunami, M Saito, J Inazawa, Y Nakamura, T Yoshida, J Yokota, F Matsuda, K Matsuo, Y Daigo, M Kubo, T Kohno

TITLE:

Association of variations in HLA class II and other loci with susceptibility to EGFR-mutated lung adenocarcinoma.

JOURNAL:

Nature communications Aug 2016, Vol 7, pp. 12451

ABSTRACT:

Lung adenocarcinoma driven by somatic EGFR mutations is more prevalent in East Asians (30-50%) than in European/Americans (10-20%). Here we investigate genetic factors underlying the risk of this disease by conducting a genome-wide association study, followed by two validation studies, in 3,173 Japanese patients with EGFR mutation-positive lung adenocarcinoma and 15,158 controls. Four loci, 5p15.33 (TERT), 6p21.3 (BTNL2), 3q28 (TP63) and 17q24.2 (BPTF), previously shown to be strongly associated with overall lung adenocarcinoma risk in East Asians, were re-discovered as loci associated with a higher susceptibility to EGFR mutation-positive lung adenocarcinoma. In addition, two additional loci, HLA class II at 6p21.32 (rs2179920; P =5.1 × 10(-17), per-allele OR=1.36) and 6p21.1 (FOXP4) (rs2495239; P=3.9 × 10(-9), per-allele OR=1.19) were newly identified as loci associated with EGFR mutation-positive lung adenocarcinoma. This study indicates that multiple genetic factors underlie the risk of lung adenocarcinomas with EGFR mutations. PUBMED: 27501781
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