Missense variants in CYP4B1 associated with increased risk of lung cancer among Chinese Han population.

INTRODUCTION: Understanding the etiology and risk factors of lung cancer (LC) is the key to developing scientific and effective prevention and control strategies for LC. CYP4B1 genetic polymorphism has been reported to be associated with susceptibility to various diseases. We aimed to explore the association between CYP4B1 genetic variants and LC susceptibility. METHODS: One thousand three hundred thirty-nine participants were recruited to perform an association analysis through SNPStats online software. Statistical analysis of this study was mainly completed by SPSS 22.0 software. False-positive report probability analysis (FPRP) to detect whether the positive findings were noteworthy. Finally, the interaction of SNP-SNP in LC risk was evaluated by multi-factor dimensionality reduction. RESULTS: We found evidence that missense variants in CYP4B1 (rs2297810, rs4646491, and rs2297809) are associated with LC susceptibility. In particular, genotype GA of CYP4B1-rs2297810 was significantly associated with an increased risk of LC in both overall and stratified analyses (genotype GA: OR (95% CI) = 1.35 (1.08-1.69), p = 0.010). CYP4B1-rs4646491 (overdominant: OR (95% CI) = 1.30 (1.04-1.62), p = 0.023) and CYP4B1-rs2297809 (genotype CT: OR (95% CI) = 1.26 (1.01-1.59), p = 0.046) are also associated with an increased risk of LC. FPRP analysis showed that all positive results in this study are noteworthy findings CONCLUSION: Three missense variants in CYP4B1 (rs2297810, rs4646491, and rs2297809) are associated with increasing risk of LC.

Genetic polymorphisms of MRPS30-DT and NINJ2 may influence lung cancer risk.

Lung cancer is one of the malignant tumors, and genetic background is a risk factor in lung cancer that cannot be neglected. In this study, we aimed to find out the effect of MRPS30-DT and NINJ2 variants on lung cancer risk. In this study, the seven selected single-nucleotide polymorphisms (SNPs) of MRPS30-DT and NINJ2 were genotyped in 509 lung cancer patients and 501 healthy controls based on the Agena MassARRAY platform. Odds ratios and 95% confidence intervals were calculated by logistic regression analysis to evaluate association between gene polymorphisms and lung cancer risk. False-positive report probability was also used to assess false-positive results. Furthermore, the interaction between SNPs was analyzed by multifactor dimensionality reduction to predict lung cancer risk. We identified the genotype TA of rs16901963 (T < A) in MRPS30-DT as a protective factor against lung cancer, while rs16901963-TT was significantly associated with an increased risk of lung cancer. We also revealed that the effect of MRPS30-DT and NINJ2 variants on the risk of lung cancer was dependent on age, gender, smoking, and drinking status. In conclusion, this study first proved that MRPS30-DT and NINJ2 variants played important roles in affecting the susceptibility to lung cancer.

Single nucleotide polymorphism in the 3' untranslated region of LPP is a risk factor for lung cancer: a case-control study.

BACKGROUND: Single nucleotide polymorphisms (SNPs) in 3'-untranslated region (UTR) of genes related with cell-matrix adhesions and migration might affect miRNA binding and potentially affect the risk of cancer. The present study aimed to screen SNPs in 3' UTR of cancer-related genes and investigate their contribution to the susceptibility of lung cancer. METHODS: Seven SNPs were selected and genotyped in a case-control study (322 lung cancer patients and 384 controls) among Chinese Han population. Odds ratio (OR) and 95% confidence intervals (CIs) were calculated by logistic regression adjusted for age and gender in multiple genetic models. RESULTS: In stratified analyses by gender, three (rs1064607, rs3796283 and rs2378456) of LPP gene were associated with a significantly increased susceptibility for lung cancer among male population. Besides, LPP rs2378456 weakened lung cancer risk in female. LPP rs1064607 polymorphism was significantly correlated with increased risk of lung adenocarcinoma. Furthermore, AA genotype of TNS3 rs9876 polymorphism was associated with lymphatic metastasis. CONCLUSION: Our results provides evidence for the impact of LPP polymorphisms on the susceptibility to lung cancer in Chinese population.

RTEL1 polymorphisms are associated with lung cancer risk in the Chinese Han population.

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.

Plasma Adiponectin Concentrations and Adiponectin Gene Polymorphisms Are Associated with Bronchial Asthma in the Chinese Li Population.

The purpose of this study was to determine the clinical significance of changes in the plasma adiponectin concentration in patients with bronchial asthma and to test the association between the single nucleotide polymorphisms (SNPs) rs2241766 and rs1501299 in the ADIPOQ gene and bronchial asthma in the Chinese Li population. We selected 120 cases and 120 controls, and plasma adiponectin, interleukin (IL)-6, and tumor necrosis factor-alpha (TNF-α) levels were measured by enzyme-linked immunosorbent assay (ELISA). In addition, we genotyped two tag single nucleotide polymorphisms (tSNPs) and evaluated their association with bronchial asthma using the χ2 test and genetic model analysis. Compared to controls, patients with acute exacerbation of bronchial asthma showed significantly lower adiponectin and significantly higher IL-6 and TNF-α levels (p<0.01). A positive association was found between the rs1501299 SNP and acute exacerbation (OR=1.62; 95% CI=1.08-2.43; p=0.019). The inverse correlation between the plasma adiponectin concentration and asthma exacerbation indicates that adiponectin may play a protective role in the pathogenesis of asthma. Meanwhile, our findings suggest that ADIPOQ polymorphisms influence the risk of developing bronchial asthma in Chinese Li population.