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全基因组关联研究(GWAS)确定的与静脉血栓栓塞易感性相关的变异数据集以及与癌症侵袭性的关联。

Dataset of GWAS-identified variants underlying venous thromboembolism susceptibility and linkage to cancer aggressiveness.

作者信息

Tavares Valéria, Pinto Ricardo, Assis Joana, Pereira Deolinda, Medeiros Rui

机构信息

Molecular Oncology and Viral Pathology Group-Research Center, Portuguese Institute of Oncology, Edificio Laboratórios, 1° piso, Rua Dr. António Bernardino de Almeida, 4200-072 Porto, Portugal.

ICBAS, Abel Salazar Institute for the Biomedical Sciences, Rua de Jorge Viterbo Ferreira, 228, 4050-313 Porto, Portugal.

出版信息

Data Brief. 2020 Mar 9;30:105399. doi: 10.1016/j.dib.2020.105399. eCollection 2020 Jun.

Abstract

Venous thromboembolism (VTE) is a common cardiovascular disease, for which several single nucleotide polymorphisms (SNPs) underlying susceptibility were identified. Apart from candidate gene approach, genome-wide association studies (GWAS) have contributed to the identification of novel VTE-associated SNPs, including some with no clear role in the haemostatic system. These genetic variants constitute potential cancer-related biomarkers, particularly predictive and prognostic biomarkers, as a two-way association between VTE and cancer is well established. The present dataset comprises the data obtained from GWAS performed to identify genetic variants associated with VTE risk. Furthermore, this dataset also comprises data regarding previously reported candidate gene and validation reports performed in adults of European ancestry that also analysed the VTE GWAS-identified variants. Lastly, to evaluate the impact of these genetic variants in carcinogenesis, a broad search was made, which has let us to establish putative links between several VTE-associated genes and cancer hallmarks in a review article entitled "Venous thromboembolism GWAS reported genetic makeup and the hallmarks of cancer: linkage to ovarian tumour behaviour".

摘要

静脉血栓栓塞症(VTE)是一种常见的心血管疾病,已经确定了一些与之相关的单核苷酸多态性(SNP)作为易感性基础。除了候选基因方法外,全基因组关联研究(GWAS)也有助于识别新的VTE相关SNP,其中一些在止血系统中没有明确作用。由于VTE与癌症之间的双向关联已得到充分证实,这些基因变异构成了潜在的癌症相关生物标志物,特别是预测性和预后性生物标志物。本数据集包含从GWAS获得的数据,这些GWAS用于识别与VTE风险相关的基因变异。此外,该数据集还包含有关先前报道的候选基因的数据以及在欧洲血统成年人中进行的验证报告数据,这些报告也分析了VTE GWAS识别出的变异。最后,为了评估这些基因变异在致癌过程中的影响,进行了广泛的搜索,这使我们在一篇题为《静脉血栓栓塞症GWAS报告的基因构成与癌症特征:与卵巢肿瘤行为的联系》的综述文章中,建立了几个VTE相关基因与癌症特征之间的假定联系。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/560e/7114903/54c1166655a5/gr1.jpg

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