eQTL analysis from co-localization of 2739 GWAS loci detects associated genes across 14 human cancers
eQTL analysis from co-localization of 2739 GWAS loci detects associated genes across 14 human cancers
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对 2739 个 GWAS 位点共定位的 eQTL 分析可检测 14 种人类癌症的相关基因
DOI：
10.1016/j.jtbi.2018.10.059
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发表时间：
2018
影响因子：
2
通讯作者：
Yanling Hu
中科院分区：
文献类型：
--
作者：
Weidong Li;Qingniao Zhou;Yong Gao;Yonghua Jiang;Yuanjie Huang;Zengnan Mo;Yiming Zou;Yanling Hu
遗传变异可以预测其他“连锁”疾病，因为体内一个或多个基因的改变可能会影响相关的表型特性。本研究基于多种癌症的GWAS位点和TCGA数据，系统地探索了泛癌共同基因和癌症类型特异性基因。结果发现，有17个SNP位点与18个基因的表达显著相关。18个顺式调控基因与肿瘤病理分期的相关性分析表明，HNSC中MYL 2和PTGFR，KIRP中F8、SATB 2、G6PD和UGT 1A6 4个基因，LUAD中CHMP 4C、MAP 3K1和MECP 2 3个基因均与肿瘤分期密切相关。此外，生存相关分析显示SATB 2与HNSC生存相关，MPP 1与SARC生存密切相关。这项研究将揭示癌症遗传相关的生物学途径，并有可能应用于预测健康个体患癌症的风险。
Genetic variants can predict other "linked" diseases because alterations in one or more genes in vivo may affect relevant phenotype properties. Our study systematically explored the pan-cancer common gene and cancer type-specific genes based on GWAS loci and TCGA data of multiple cancers. It was found that there were 17 SNPs were significantly associated with the expression of 18 genes. Associations between the 18 cis-regulatory genes and the pathologic stage of each cancer showed that MYL2 and PTGFR in HNSC, 4 genes (F8, SATB2, G6PD and UGT1A6) in KIRP, 3 genes (CHMP4C, MAP3K1 and MECP2) in LUAD were all strongly associated with cancer stage levels. Additionally, the survival association analysis showed that SATB2 was correlated with HNSC survival, and MPP1 was strongly associated with the survival of SARC. This study will shed light on the biological pathways involved in cancer-genetic associations, and has the potential to be applied to the predictions of the risk of cancers developing in healthy individuals.