Lung cancer is one of the most common cancers and the major cause of cancer death, both in Korea and worldwide, with non-small cell lung cancer (NSCLC) as the predominant histologic type. To identify genetic risk factors, we here conducted a genome-wide association study (GWAS) and a replication study in 1425 patients with NSCLC and 3011 controls from Korea. From the data for 2162 participants analyzed using the Affymetrix Genome-wide Human SNP array 5.0K, 168 single nucleotide polymorphisms (SNPs) were selected for validation. In the second stage, we were able to genotype 168 SNPs in 804 patients and 1470 controls to confirm the results of the GWAS. In the meta-analysis, rs2131877 at the chromosome 3q29 region was the most significant biomarker of lung cancer susceptibility in Koreans (P = 2.43 × 10-8). Four markers that were located within the chromosome 3q29 region were also associated with lung cancer susceptibility (trend P < 1.2 × 10-4), along with markers on 5p15 that were previously reported in populations of European descent. This high-density large-scale GWAS carried out in the Korean population suggests that 3q29 is a novel susceptibility region associated with lung cancer susceptibility in Koreans.
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