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Intronic variant of EGFR is associated with GBAS expression and survival outcome of early-stage non-small cell lung cancer
  • 작성일2019-05-09
  • 최종수정일2019-05-09
  • 담당부서연구기획과
  • 연락처043-719-8033
  • 679
Thoracic Cancer, 2018, 9(8), 916─923, DOI: https://doi.org/10.1111/1759-7714.12757

Intronic variant of EGFR is associated with GBAS expression and survival outcome of early-stage non-small cell lung cancer

Mi Jeong Hong, Shin Yup Lee; Jin Eun Choi; Hyo-Gyoung Kang; Sook Kyung Do; Jang Hyuck Lee; Seung Soo Yoo; Eung Bae Lee; Yangki Seok; Sukki Cho; Sanghoon Jheon; Jaehee Lee; Seung Ick Cha; Chang Ho Kim; Jae Yong Park

Abstract

    Background: Genome-wide association studies have indicated that most of the currently identified disease and trait-associated single nucleotide polymorphisms (SNPs) are intronic or intergenic. RegulomeDB is a recently developed database that provides functional annotations for regulatory features of SNPs located in non-coding regions. We evaluated the potential regulatory SNPs in the EGFR gene region using RegulomeDB and their associations with prognosis after surgery in non-small cell lung cancer (NSCLC) patients.
    Methods: A total of 698 patients with surgically resected NSCLC were enrolled and seven SNPs were selected based on the RegulomeDB database. All SNPs were genotyped using SEQUENOM MassARRAY iPLEX assay.
    Results: Among the seven SNPs evaluated, rs9642391 (EGFR ivs19+2851C>G) was significantly associated with survival outcome (adjusted hazard ratio [HR] for overall survival = 0.70, 95% confidence interval [CI] 0.56–0.87, P = 0.001; adjusted HR for disease-free survival = 0.82, 95% CI 0.70–0.97, P = 0.02; under a codominant model). According to RegulomeDB, rs9642391C>G, which is located in intron 19 of EGFR, was predicted to influence the expression of GBAS but not EGFR. As predicted, rs9642391C>G was associated with GBAS (P = 0.024) but not EGFR messenger RNA expression in tumor tissues.
    Conclusion: In conclusion, our study provides evidence that rs9642391C>G in the intron of EGFR is associated with GBAS expression and survival outcomes of patients with surgically resected early-stage NSCLC.



  • 본 연구는 질병관리본부 연구개발과제(과제번호 2018-보건의료생물자원종합관리) 연구비를 지원받아 수행되었습니다.
  • This research was supported by a fund(code 2018-보건의료생물자원종합관리) by Research of Korea Centers for Disease Control and Prevention.


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