Abstract
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.
Highlights
Lung Cancer (LC) is differentiated into four major histologic classes, including adenocarcinoma, squamous cell carcinoma, small cell carcinoma and large cell carcinoma [1]
These findings suggest a potential association between RTEL1 polymorphisms and LC risk in a Chinese Han population
We used the chi-squared test to assess the influence of gene polymorphism on LC risk in the allele model, and found that RTEL1 rs2738780 reduced LC risk Odds ratios (OR) = 0.80 95% confidence interval (CI): 0.638–0.998, p = 0.048, Table 2)
Summary
Lung Cancer (LC) is differentiated into four major histologic classes, including adenocarcinoma, squamous cell carcinoma, small cell carcinoma and large cell carcinoma [1]. LC is the leading cause of cancer mortality worldwide, with a death rate in China of 39.54/100,000 [2]. Causes of lung cancer are diverse, and include active and passive smoking, ionizing radiation exposure, arsenic, aromatic hydrocarbons, genetic predisposition, lifestyle, diet and pre-existing nonmalignant lung diseases, such as idiopathic pulmonary fibrosis and tuberculosis [4]. Genetic predisposition frequently plays an extremely important role in the occurrence of cancer. Incidences of rare alleles are significantly higher in cancer patients than controls, suggesting that these alleles predisposed patients to tumors [5, 6]. Multiple RTEL1 (regulator of telomere elongation helicase 1) gene mutants appear e relevant to LC [7]
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