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基于全基因组关联研究的荟萃分析识别肺癌易感基因位点

黄文杰 郑心怡 王雪梅 张翠珍 邱晓燕

中国临床药学杂志2024,Vol.33Issue(6):425-431,7.
中国临床药学杂志2024,Vol.33Issue(6):425-431,7.DOI:10.19577/j.1007-4406.2024.06.005

基于全基因组关联研究的荟萃分析识别肺癌易感基因位点

Genome-wide Meta-analysis identified susceptibility loci for lung cancer

黄文杰 1郑心怡 1王雪梅 2张翠珍 1邱晓燕1

作者信息

  • 1. 复旦大学附属华山医院药剂科,上海 200040
  • 2. 吉林大学第一医院药剂科,长春 130031
  • 折叠

摘要

Abstract

AIM To search for additional genetic susceptibility loci for lung cancer,screening potential therapeutic sites.METHODS Summary data from 4 preceding genome-wide association studies conducted in Japan,South Korea,Finland,and the United Kingdom were systematically compiled.Then,quality control procedures were executed utilizing the R software environment(Version 4.1.0).Subsequently,METAL software(Windows)was used to conduct inverse-variance weighted Meta-analysis on the data from East Asian,European,and trans-ethnic populations to identify genome-wide significant loci(P<5.0×10-8).Subsequent functional annotations for the identified genome-wide significant loci were conducted using the RegulomeDB,3D-SNP,and HaploReg databases.Lung cancer risk genes reaching significant differentiation(P<2.57×10-6)were discerned by using a gene-based analytical approach.RESULTS A total of 33 novel SNPs were identified at 4 loci(3q28,6p21.32,22q12.1,and 20q13.33),which were found to be significantly associated with lung cancer risk.Additionally,2 new genes,TTC28 and CCDC117 located at 22q12.1,were discovered to be linked with lung cancer susceptibility.CONCLUSION This investigation has successfully identified new genetic variants and genes associated with the risk of lung cancer,providing a new perspective on the genetic mechanisms of lung cancer.

关键词

肺癌/基因组关联研究/单核苷酸多态性/易感基因位点

Key words

lung cancer/genome-wide association study/single nucleotide polymorphism/susceptibility loci

引用本文复制引用

黄文杰,郑心怡,王雪梅,张翠珍,邱晓燕..基于全基因组关联研究的荟萃分析识别肺癌易感基因位点[J].中国临床药学杂志,2024,33(6):425-431,7.

中国临床药学杂志

OACSTPCD

1007-4406

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