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Genome-wide association study identifies a novel susceptibility locus at 12q23.1 for lung squamous cell carcinoma in han chinese.


ABSTRACT: Adenocarcinoma (AC) and squamous cell carcinoma (SqCC) are two major histological subtypes of lung cancer. Genome-wide association studies (GWAS) have made considerable advances in the understanding of lung cancer susceptibility. Obvious heterogeneity has been observed between different histological subtypes of lung cancer, but genetic determinants in specific to lung SqCC have not been systematically investigated. Here, we performed the GWAS analysis specifically for lung SqCC in 833 SqCC cases and 3,094 controls followed by a two-stage replication in additional 2,223 lung SqCC cases and 6,409 controls from Chinese populations. We found that rs12296850 in SLC17A8-NR1H4 gene region at12q23.1 was significantly associated with risk of lung SqCC at genome-wide significance level [additive model: odds ratio (OR)?=?0.78, 95% confidence interval (CI)?=?0.72-0.84, P?=?1.19×10(-10)]. Subjects carrying AG or GG genotype had a 26% (OR?=?0.74, 95% CI?=?0.67-0.81) or 32% (OR?=?0.68, 95% CI?=?0.56-0.83) decreased risk of lung SqCC, respectively, as compared with AA genotype. However, we did not observe significant association between rs12296850 and risk of lung AC in a total of 4,368 cases with lung AC and 9,486 controls (OR?=?0.96, 95% CI?=?0.90-1.02, P?=?0.173). These results indicate that genetic variations on chromosome 12q23.1 may specifically contribute to lung SqCC susceptibility in Chinese population.

SUBMITTER: Dong J 

PROVIDER: S-EPMC3547794 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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Genome-wide association study identifies a novel susceptibility locus at 12q23.1 for lung squamous cell carcinoma in han chinese.

Dong Jing J   Jin Guangfu G   Wu Chen C   Guo Huan H   Zhou Baosen B   Lv Jiachun J   Lu Daru D   Shi Yongyong Y   Shu Yongqian Y   Xu Lin L   Chu Minjie M   Wang Cheng C   Zhang Ruyang R   Dai Juncheng J   Jiang Yue Y   Yu Dianke D   Ma Hongxia H   Zhao Xueying X   Yin Zhihua Z   Yang Lei L   Li Zhiqiang Z   Deng Qifei Q   Cao Songyu S   Qin Zhenzhen Z   Gong Jianhang J   Sun Chongqi C   Wang Jiucun J   Wu Wei W   Zhou Guoquan G   Chen Hongyan H   Guan Peng P   Chen Yijiang Y   Liu Xiangyang X   Liu Li L   Xu Pin P   Han Baohui B   Bai Chunxue C   Zhao Yuxia Y   Zhang Haibo H   Yan Ying Y   Liu Jibin J   Amos Christopher I CI   Chen Feng F   Tan Wen W   Jin Li L   Wu Tangchun T   Hu Zhibin Z   Lin Dongxin D   Shen Hongbing H  

PLoS genetics 20130117 1


Adenocarcinoma (AC) and squamous cell carcinoma (SqCC) are two major histological subtypes of lung cancer. Genome-wide association studies (GWAS) have made considerable advances in the understanding of lung cancer susceptibility. Obvious heterogeneity has been observed between different histological subtypes of lung cancer, but genetic determinants in specific to lung SqCC have not been systematically investigated. Here, we performed the GWAS analysis specifically for lung SqCC in 833 SqCC cases  ...[more]

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