重新审视卵巢癌基因组学：全基因组关联研究处于什么地位？
Rethinking ovarian cancer genomics: where genome-wide association studies stand?
作者信息
Pinto Ricardo, Assis Joana, Nogueira Augusto, Pereira Carina, Pereira Deolinda, Medeiros Rui
机构信息
Molecular Oncology & Viral Pathology Group-Research Center, Portuguese Institute of Oncology, Edifício Laboratórios. 4° piso, Rua Dr. António Bernardino de Almeida, 4200-4072, Porto, Portugal.
ICBAS, Abel Salazar Institute for the Biomedical Sciences, Rua de Jorge Viterbo Ferreira, 228, 4050-313, Porto, Portugal.
出版信息
Pharmacogenomics. 2017 Nov;18(17):1611-1625. doi: 10.2217/pgs-2017-0108. Epub 2017 Nov 2.
Genome-wide association studies (GWAS) allow the finding of genetic variants associated with several traits. Regarding ovarian cancer (OC), 15 GWAS have been conducted since 2009, with the discovery of 49 SNPs associated with disease susceptibility and 46 with impact in the clinical outcome of patients (p < 5.00 × 10). Among them, 14 variants reached the genome-wide significance (p < 5.00 × 10). Despite the results obtained, they should be validated in independent sets. So far, five validation studies have been conducted which could confirm the association of 12 OC susceptibility SNPs. Consequently, post-GWAS studies are crucial unravel the biological plausibility of GWAS' findings and the allelic spectrum of OC.
全基因组关联研究（GWAS）有助于发现与多种性状相关的基因变异。关于卵巢癌（OC），自2009年以来已开展了15项GWAS，发现了49个与疾病易感性相关的单核苷酸多态性（SNP）以及46个对患者临床结局有影响的SNP（p < 5.00×10）。其中，14个变异达到全基因组显著性水平（p < 5.00×10）。尽管取得了这些结果，但仍需在独立样本中进行验证。到目前为止，已开展了五项验证研究，这些研究能够证实12个OC易感性SNP的关联性。因此，GWAS后研究对于阐明GWAS结果的生物学合理性以及OC的等位基因谱至关重要。
Zotero 插件