Identification Through Genome-Wide Association Study (Gwas) Of Single Nucleotide Polymorphisms (Snps) Associated With Extreme Phenotypes Of Tobacco-Induced Non-Small Cell Lung Cancer (Nsclc) Risk.

JOURNAL OF CLINICAL ONCOLOGY(2014)

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摘要
11046 Background: SNPs may modulate individual susceptibility to carcinogens. We used GWAS to identify SNPs associated with individuals presenting extreme phenotypes of sensitivity and resistance to develop tobacco induced NSCLC. We hypothesized that selection of extreme phenotypes would enrich the frequencies of alleles that contribute to the trait, thus increasing the power to identify them. Methods: From an identification cohort (n=3631) we selected caucasian heavy smokers that either developed NSCLC at an early age (cancer cohort) or that did not present NSCLC at an advanced age (cancer free cohort). We analyzed their genomic DNA using the array Illumina HumanOmni 2.5 Quad that includes over 2 million powerful markers selected from the 1000 Genomes Project, targeting genetic variation down to 1% minor allele frequency. Results: 96 patients (48 per cohort) were selected. Mean age for the cancer and cancer free cohorts was 49 (range 38-55) and 76 years (72-84). Mean tobacco consumption was 41 (range 18-...
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cell lung cancer,single nucleotide polymorphisms,gwas,genome-wide,tobacco-induced,non-small
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