期刊
PLOS GENETICS
卷 9, 期 1, 页码 -出版社
PUBLIC LIBRARY SCIENCE
DOI: 10.1371/journal.pgen.1003190
关键词
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资金
- Key Project of the National Natural Science Foundation of China [81230067]
- National Outstanding Youth Science Foundation of China [81225020]
- National Key Basic Research Program Grant [2013CB911400, 2011CB503805, 2013CB910304]
- National Natural Science Foundation of China [30972541, 81270044, 30901233, 81001276]
- Jiangsu Natural Science Foundation [BK2011028, BK2012042]
- Natural Science Foundation of the Jiangsu Higher Education Institutions of China [11KJA330001]
- China National High-Tech Research and Development Program Grant [2009AA022705]
- U.S. NIH [U19 CA148127]
- Priority Academic Program Development of Jiangsu Higher Education Institutions
- Doctoral Scientific Fund Project of the Ministry of Education of China [20093234110001]
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 = 1.19610(-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.
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