PDF(Pubmed)
Abstract：
Radiotherapy is focused on the tumor but also reaches healthy tissues, causing toxicities that are possibly related to genomic factors. In this context, radiogenomics can help reduce the toxicity, increase the effectiveness of radiotherapy, and personalize treatment. It is important to consider the genomic profiles of populations not yet studied in radiogenomics, such as the indigenous Amazonian population. Thus, our objective was to analyze important genes for radiogenomics, such as ATM, TGFB1, RAD51, AREG, XRCC4, CDK1, MEG3, PRKCE, TANC1, and KDR, in indigenous people and draw a radiogenomic profile of this population. The NextSeq 500® platform was used for sequencing reactions; for differences in the allelic frequency between populations, Fisher\'s Exact Test was used. We identified 39 variants, 2 of which were high impact: 1 in KDR (rs41452948) and another in XRCC4 (rs1805377). We found four modifying variants not yet described in the literature in PRKCE. We did not find any variants in TANC1-an important gene for personalized medicine in radiotherapy-that were associated with toxicities in previous cohorts, configuring a protective factor for indigenous people. We identified four SNVs (rs664143, rs1801516, rs1870377, rs1800470) that were associated with toxicity in previous studies. Knowing the radiogenomic profile of indigenous people can help personalize their radiotherapy.
摘要：
放射治疗的重点是肿瘤，但也可以到达健康组织，引起可能与基因组因素有关的毒性。在这种情况下，放射性基因组学可以帮助减少毒性，增加放射治疗的有效性，和个性化治疗。重要的是要考虑尚未在放射基因组学中研究的人群的基因组概况，例如亚马逊土著人口。因此，我们的目标是分析放射基因组学的重要基因，比如ATM,TGFB1,RAD51,AREG,XRCC4,CDK1,MEG3,PRKCE,TANC1和KDR,在土著人民中，并绘制了该人群的放射性基因组概况。NextSeq500®平台用于测序反应；对于群体之间等位基因频率的差异，使用Fisher精确检验。我们鉴定了39个变种,其中2个是高影响：1个在KDR（rs41452948）中，另一个在XRCC4（rs1805377）中。我们在PRKCE中发现了四种尚未在文献中描述的修饰变体。我们在TANC1中没有发现任何变异，TANC1是放疗中个性化用药的重要基因，在以前的队列中与毒性相关。为土著人民配置保护因素。我们确定了四个SNV（rs664143，rs1801516，rs1870377，rs1800470），在以前的研究中与毒性相关。了解土著人民的放射基因组概况可以帮助个性化他们的放射治疗。
