Additional file 1: of Exome-wide association study identifies genetic polymorphisms of C12orf51, MYL2, and ALDH2 associated with blood lead levels in the general Korean population

Results of exome-wide association study for screening of genetic variability for blood lead levels; Table S1. Top 100 single nucleotide polymorphisms most significantly associated with blood lead levels, as identified by the exome-wide association study; Figure S1. Regional association plot of single nucleotide polymorphisms near C12orf51 and ALDH2 genes on chromosome 12q24. (DOCX 139 kb

Associations between the haplotypes of two non-synonymous SNPs of <i>PON1</i> and the risk of lung cancer, according to smoking status

<p>^aAdjusted for age, sex, smoking status, and occupational history.</p><p>^bAdjusted for age, sex, and occupational history.</p><p>Associations between the haplotypes of two non-synonymous SNPs of <i>PON1</i> and the risk of lung cancer, according to smoking status</p

Interactions between <i>Paraoxonase 1</i> Genetic Polymorphisms and Smoking and Their Effects on Oxidative Stress and Lung Cancer Risk in a Korean Population

<div><p>Background</p><p>Few studies in epidemiology have evaluated the effects of gene-environment interaction on oxidative stress, even though this interaction is an important etiologic factor in lung carcinogenesis. We investigated the effects of the genetic polymorphisms of paraoxonase 1 (PON1), smoking, and the interaction between the two on lung cancer risk and oxidative stress.</p><p>Methods</p><p>This study’s subjects consisted of 416 newly diagnosed lung cancer patients and an equal number of matched controls. The GoldenGate assay was used for genotypic analyses of the <i>PON1</i> gene. Urinary 8-hydroxydeoxyguanosine (8-OHdG) and thiobarbituric acid reactive substances levels were measured as indicators of oxidative stress.</p><p>Results</p><p>The <i>PON1</i> rs662 AA genotype showed a significantly lower risk of lung cancer than the GG genotype (OR = 0.60, 95% CI: 0.36–0.99). The protective effect of the <i>PON1</i> rs662 AA genotype on lung cancer risk was limited to non-smokers. Lung cancer patients who had the rs662 A allele showed a dose-dependent association between smoking status and oxidative stress markers. Among non-smoking lung cancer patients, urinary 8-OHdG levels were significantly lower in individuals with the rs662 GA and AA genotypes than in those with the GG genotype. Furthermore, we found a significant interaction effect between <i>PON1</i> rs662 and smoking status on urinary 8-OHdG levels in lung cancer patients.</p><p>Conclusions</p><p>Our results suggest that the protective effect of <i>PON1</i> rs662 SNP against lung carcinogenesis and the induction of oxidative stress might be modulated by the interaction between <i>PON1</i> genetic polymorphisms and tobacco smoking.</p></div

General characteristics of lung cancer cases and controls.

<p>TBARS: thiobarbituric acid reactive substances; 8-OHdG: 8-hydroxydeoxyguanosine; GM: geometric mean; CI: confidence intervals.</p><p>^aAdjusted for age and sex.</p><p>^bAdjusted for age, sex and smoking status.</p><p>^cIndividuals who have work experience in occupations related lung cancer risk, such as petrochemicals, construction, mining, asbestos or rockwool production, welding, electrical manufacture, plastic or rubber manufacture, smelting, and asphalt.</p><p>^dReference category is all other occupations.</p><p>General characteristics of lung cancer cases and controls.</p

Geometric means and 95% confidence intervals for urinary oxidative stress markers (A: 8-hydroxydeoxyguanosine, B: thiobarbituric acid reactive substances) according to smoking status and <i>PON1</i> rs662 SNP in lung cancer patients and controls.

<p>*Significant difference between the genotypes in non-smokers (P = 0.017), ** Significant interaction (SNP×smoking)(P = 0.025).</p