de Lima Milena Cardoso, de Castro Cinthia Costa, Aguiar Kaio Evandro Cardoso, Monte Natasha, Nunes Giovanna Gilioli da Costa, Costa Ana Caroline Alves da, Rodrigues Juliana Carla Gomes, Guerreiro João Farias, Ribeiro-Dos-Santos Ândrea, Assumpção Paulo Pimentel de, Burbano Rommel Mario Rodríguez, Fernandes Marianne Rodrigues, Dos Santos Sidney Emanuel Batista, Dos Santos Ney Pereira Carneiro
Oncology Research Center, Federal University of Pará, Belém 66073-005, PA, Brazil.
Laboratory of Human and Medical Genetics, Federal University of Pará, Belém 66075-110, PA, Brazil.
J Pers Med. 2024 Apr 30;14(5):484. doi: 10.3390/jpm14050484.
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 , , , , , CDK1, , , , and , 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 (rs41452948) and another in (rs1805377). We found four modifying variants not yet described in the literature in . We did not find any variants in -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.
放射治疗主要针对肿瘤,但也会波及健康组织,从而引发可能与基因组因素相关的毒性反应。在此背景下,放射基因组学有助于降低毒性、提高放射治疗效果并实现个性化治疗。考虑尚未在放射基因组学中得到研究的人群的基因组概况非常重要,比如亚马逊原住民群体。因此,我们的目标是分析放射基因组学的重要基因,如 、 、 、 、 、细胞周期蛋白依赖性激酶1(CDK1)、 、 、 ,以及 ,以绘制该人群的放射基因组图谱。NextSeq 500平台用于测序反应;对于不同人群等位基因频率的差异,采用了费舍尔精确检验。我们鉴定出39个变异,其中2个具有高影响:一个在 (rs41452948),另一个在 (rs1805377)。我们在 中发现了4个文献中尚未描述的修饰变异。我们在 (放射治疗个性化医学的一个重要基因)中未发现任何与先前队列中的毒性相关的变异,这为原住民构成了一个保护因素。我们鉴定出4个单核苷酸变异(SNV,rs664143、rs1801516、rs1870377、rs1800470),它们在先前的研究中与毒性相关。了解原住民的放射基因组图谱有助于实现他们放射治疗的个性化。