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韩国人群肺癌生存全基因组关联研究结果的重复验证

Replication of results of a genome-wide association study on lung cancer survival in a Korean population.

作者信息

Yoo Seung Soo, Hong Mi Jeong, Jeon Hyo-Sung, Lee Won Kee, Lee Shin Yup, Lee Jaehee, Cha Seung Ick, Kim Chang Ho, Lee Eungbae, Park Jae Yong

机构信息

Department of Internal Medicine, Kyungpook National University School of Medicine, Daegu, Korea; Lung Cancer Center, Kyungpoook National University Medical Center, Daegu, Korea.

Department of Biochemistry and Cell Biology, Kyungpook National University School of Medicine, Daegu, Korea.

出版信息

Cancer Genet. 2014 Jan-Feb;207(1-2):35-9.e1-2. doi: 10.1016/j.cancergen.2013.12.002. Epub 2014 Jan 3.

Abstract

Recently, a genome-wide association study (GWAS) identified single nucleotide polymorphisms (SNPs) that may influence the prognosis of early-stage non-small cell lung cancer (NSCLC) in Caucasians. We attempted to replicate the impact of genetic variants identified in the GWAS on lung cancer survival in a Korean population. A total of 363 patients with surgically resected NSCLCs were enrolled, and 12 SNPs were genotyped using the SEQUENOM MassARRAY iPLEX assay, TaqMan assay, or a polymerase chain reaction-restriction fragment length polymorphism analysis. The association between genotypes and overall survival (OS) was analyzed. Among the 12 SNPs, the rs6034368T>C was associated with OS. Patients with the rs6034368C allele showed a better OS than the patients with the rs6034368T allele (adjusted hazard ratio = 0.72, confidence interval = 0.56-0.93, P = 0.01). The rs12446308A>G had an effect on OS, but it was marginally significant (under a codominant model, adjusted hazard ratio = 1.85, confidence interval = 0.98-3.47, P = 0.06). We identified that the rs6034368T>C was associated with survival in early-stage NSCLC in a Korean population.

摘要

最近,一项全基因组关联研究(GWAS)确定了可能影响高加索人早期非小细胞肺癌(NSCLC)预后的单核苷酸多态性(SNP)。我们试图在韩国人群中复制GWAS中鉴定出的基因变异对肺癌生存的影响。共纳入363例接受手术切除的NSCLC患者,并使用SEQUENOM MassARRAY iPLEX检测、TaqMan检测或聚合酶链反应-限制性片段长度多态性分析对12个SNP进行基因分型。分析了基因型与总生存期(OS)之间的关联。在这12个SNP中,rs6034368T>C与OS相关。携带rs6034368C等位基因的患者比携带rs6034368T等位基因的患者OS更好(调整后的风险比=0.72,置信区间=0.56-0.93,P=0.01)。rs12446308A>G对OS有影响,但差异不显著(在共显性模型下,调整后的风险比=1.85,置信区间=0.98-3.47,P=0.06)。我们确定rs6034368T>C与韩国人群早期NSCLC的生存相关。

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