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Variation in TP63 is associated with lung adenocarcinoma susceptibility in Japanese and Korean populations

Nat Genet. 2010 Oct;42(10):893-6
Daiki Miki1,2, Michiaki Kubo3, Atsushi Takahashi4, Kyong-Ah Yoon5, Jeongseon Kim5, Geon-Kook Lee5, Jae Ill Zo5, Jin Soo Lee5, Naoya Hosono3, Takashi Morizono6, Tatsuhiko Tsunoda6, Naoyuki Kamatani4, Kazuaki Chayama2, Takashi Takahashi7, Johji Inazawa8, Yusuke Nakamura1 & Yataro Daigo1,9,10
1 Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan. 2 Department of Medical Molecular Science, Hiroshima University, Hiroshima, Japan. 3 Laboratory for Genotyping Development, Center for Genomic Medicine, RIKEN, Yokohama, Japan. 4 Laboratory for Statistical Analysis, Center for Genomic Medicine, RIKEN, Yokohama, Japan. 5 Research Institute and Hospital, National Cancer Center, Goyang, Gyeonggi, Korea. 6 Laboratory for Medical Informatics, Center for Genomic Medicine, RIKEN, Yokohama, Japan. 7 Division of Molecular Carcinogenesis, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan. 8 Department of Molecular Cytogenetics, Medical Research Institute and School of Biomedical Science, Tokyo Medical and Dental University, Tokyo, Japan. 9 Department of Medical Oncology, Shiga University of Medical Science, Otsu, Japan. 10 Cancer Center, Shiga University of Medical Science Hospital, Otsu, Japan.

Lung cancer is the most common cause of death from cancer worldwide, and its incidence is increasing in East Asian and Western countries. To identify genetic factors that modify the risk of lung adenocarcinoma, we conducted a genome-wide association study in a Japanese cohort, with replication in two independent studies in Japanese and Korean individuals, in a total of 2,098 lung adenocarcinoma cases and 11,048 controls. The combined analyses identified two susceptibility loci for lung adenocarcinoma: TERT (rs2736100, combined P = 2.91 × 10-11), odds ratio (OR) = 1.27) and TP63 (rs10937405, combined P = 7.26 × 10-12), OR = 1.31). Fine mapping of the region containing TP63 showed that a SNP (rs4488809) in intron 1 of TP63 showed the most significant association. Our results suggest that genetic variation in TP63 may influence susceptibility to lung adenocarcinoma in East Asian populations.