A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese

• Published in: Nature genetics Vol. 43; no. 8; pp. 792 - 796
• Main Authors: Hu, Zhibin, Wu, Chen, Shi, Yongyong, Guo, Huan, Zhao, Xueying, Yin, Zhihua, Yang, Lei, Dai, Juncheng, Hu, Lingmin, Tan, Wen, Li, Zhiqiang, Deng, Qifei, Wang, Jiucun, Wu, Wei, Jin, Guangfu, Jiang, Yue, Yu, Dianke, Zhou, Guoquan, Chen, Hongyan, Guan, Peng, Chen, Yijiang, Shu, Yongqian, Xu, Lin, Liu, Xiangyang, Liu, Li, Xu, Ping, Han, Baohui, Bai, Chunxue, Zhao, Yuxia, Zhang, Haibo, Yan, Ying, Ma, Hongxia, Chen, Jiaping, Chu, Mingjie, Lu, Feng, Zhang, Zhengdong, Chen, Feng, Wang, Xinru, Jin, Li, Lu, Jiachun, Zhou, Baosen, Lu, Daru, Wu, Tangchun, Lin, Dongxin, Shen, Hongbing
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.08.2011; Nature Publishing Group
• Subjects: 631/208/205/2138; 631/208/727/2000; 631/67/2324; 692/699/67/1612; Adenocarcinoma - genetics; Agriculture; Animal Genetics and Genomics; Asian Continental Ancestry Group - genetics; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; Cancer Research; Carcinoma, Squamous Cell - genetics; Case-Control Studies; Chromosomes; Chromosomes, Human, Pair 13 - genetics; Chromosomes, Human, Pair 22 - genetics; Disease susceptibility; Fundamental and applied biological sciences. Psychology; Gene Function; Genetic aspects; Genetic factors; Genetic Loci; Genetic variance; Genetics of eukaryotes. Biological and molecular evolution; Genome, Human; Genome-Wide Association Study; Genomes; Genotype; Human Genetics; Humans; letter; Lung - metabolism; Lung - pathology; Lung cancer; Lung Neoplasms - genetics; Medical sciences; Pneumology; Polymorphism, Single Nucleotide - genetics; Principal components analysis; Single nucleotide polymorphisms; Small Cell Lung Carcinoma - genetics; Tumors of the respiratory system and mediastinum; Validation studies; China; Lung disease; Respiratory disease; Lung cancer; Bronchus disease; Chinese; Identification; Malignant tumor; Locus; Cancer
• ISSN: 1061-4036; 1546-1718; 1546-1718
• DOI: 10.1038/ng.875

Hongbing Shen and colleagues report a genome-wide association study for lung cancer in individuals of Han Chinese ancestry. The authors identify two new lung cancer susceptibility loci. Lung cancer is the leading cause of cancer-related deaths worldwide. To identify genetic factors that modify the risk of lung cancer in individuals of Chinese ancestry, we performed a genome-wide association scan in 5,408 subjects (2,331 individuals with lung cancer (cases) and 3,077 controls) followed by a two-stage validation among 12,722 subjects (6,313 cases and 6,409 controls). The combined analyses identified six well-replicated SNPs with independent effects and significant lung cancer associations ( P < 5.0 × 10 −8 ) located in TP63 (rs4488809 at 3q28, P = 7.2 × 10 −26 ), TERT - CLPTM1L (rs465498 and rs2736100 at 5p15.33, P = 1.2 × 10 −20 and P = 1.0 × 10 −27 , respectively), MIPEP - TNFRSF19 (rs753955 at 13q12.12, P = 1.5 × 10 −12 ) and MTMR3 - HORMAD2 - LIF (rs17728461 and rs36600 at 22q12.2, P = 1.1 × 10 −11 and P = 6.2 × 10 −13 , respectively). Two of these loci (13q12.12 and 22q12.2) were newly identified in the Chinese population. These results suggest that genetic variants in 3q28, 5p15.33, 13q12.12 and 22q12.2 may contribute to the susceptibility of lung cancer in Han Chinese.