RTEL1 polymorphisms are associated with lung cancer risk in the Chinese Han population
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Shouchun Yan1,2, Ridong Xia3,4,5, Tianbo Jin3,4,5,6, Hui Ren1, Hua Yang6, Jing Li6, Mengdan Yan6, Yuanyuan Zhu6, Mingwei Chen1
1Department of Respiratory and Critical Care Medicine, The First Affiliated Hospital of Xi’an Jiaotong University, Xi’an, Shaanxi 710061, China
2Department of Emergency Medicine, Xi'an NO.1 Hospital, Xi'an, Shaanxi 710002, China
3Key Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi 712082, China
4Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi 712082, China
5Key Laboratory for Basic Life Science Research of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi 712082, China
6School of Life Sciences, Northwest University, Xi’an, Shaanxi 710069, China
Mingwei Chen, email: [email protected]
Keywords: single nucleotide polymorphism, RTEL1, lung cancer, case-control study, Chinese Han
Received: June 01, 2016 Accepted: August 26, 2016 Published: September 28, 2016
RTEL1 (regulator of telomere elongation helicase 1; OMIM 608833) gene polymorphisms were linked to lung cancer (LC) susceptibility in a cancer genome-wide association study (GWAS) Here, we assessed whether seven previously reported RTEL1 polymorphisms influenced LC risk in Han Chinese population. All study samples (554 LC cases and 696 cancer-free controls) were collected from the Affiliated Hospital of Xizang Minzu University in China. We assessed associations between SNPs and LC risk using various several genetic models (codominant, dominant, recessive, overdominant, and additive). Whereas rs2738780 showed a protective effect against LC (Odds ratio (OR) = 0.80 ;95% confidence interval (CI): 0.638 = 0.998; p = 0.048), rs7261546(OR = 4.16; 95% CI: 1.35–12.82; p = 0.007), rs6062299(OR=5.08; 95% CI: 1.43–18.10; p = 0.005) and rs3787098(OR = 5.10; 95% CI: 1.43–18.15; p = 0.004) were all associated with increased LC susceptibility (recessive model). Haplotype analysis suggested that ‘‘CTC’’ was associated with a 0.8-fold decrease in LC risk (OR = 0.80, 95% CI, 0.63–1.00; Pearson’s p = 0.05). These findings suggest a potential association between RTEL1 polymorphisms and LC risk in a Chinese Han population.
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