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J.Y. Park



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    P1.06 - Poster Session/ Screening and Early Detection (ID 218)

    • Event: WCLC 2015
    • Type: Poster
    • Track: Screening and Early Detection
    • Presentations: 1
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      P1.06-016 - A Novel Functional Polymorphism in CIR1 Gene Is Associated with the Risk of Lung Cancer (ID 1131)

      09:30 - 17:00  |  Author(s): J.Y. Park

      • Abstract
      • Slides

      Background:
      We evaluated the associations between potentially functional variants in cancer-related genes and the risk of lung cancer to identify genetic factors responsible for lung cancer susceptibility in a Korean population.

      Methods:
      A total of 1,969 potentially functional single nucleotide polymorphisms (SNPs) of 1,151 genes involved in carcinogenesis were evaluated using the Affymetrix custom-made GeneChip in 610 NSCLC patients and 610 healthy controls. A replication study was performed on an independent set of 490 cases and 486 controls.

      Results:
      Eighty two SNPs with P < 0.05 for genotype distribution in the discovery set were tested in the replication study. Among the 82 SNPs, three SNPs (corepressor interacting with RBPJ 1 [CIR1] SNP1T>C, solute carrier family 38, member 4 [SLC38A4] SNP2C>T, ribonucleotide reductase M1 [RRM1] SNP3T>C) constantly showed significant associations with lung cancer (adjusted odds ratio [aOR] = 0.68, 95% CI = 0.59-0.84, P < 0.0001; aOR = 0.74, 95% CI = 0.63-0.88, P = 0.001; aOR = 0.72, 95% CI = 0.56-0.93, P = 0.01, respectively, under dominant model). Promoter assay demonstrated a decreased reporter gene expression for CIR1 SNP1 C allele was observed compared with T allele (P = 0.02).

      Conclusion:
      Our results suggest that the three SNPs, particularly CIR1 SNP1T>C, may contribute to lung cancer susceptibility in Koreans.

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