Nakanishi Giovana, Bertagnolli Laísa S, Pita-Oliveira Murilo, Scudeler Mariana M, Torres-Loureiro Sabrina, Almeida-Dantas Thaís, Alves Maria Laura C, Cirino Heithor S, Rodrigues-Soares Fernanda
Departamento de Patologia, Genética e Evolução, Instituto de Ciências Biológicas e Naturais, Universidade Federal do Triângulo Mineiro, Uberaba, Brazil.
Drug Metab Rev. 2022 Feb;54(1):37-45. doi: 10.1080/03602532.2022.2036996. Epub 2022 Feb 15.
The and genes encode homonymous enzymes, which are responsible for the detoxification of several substances potentially harmful to the human body, such as air pollution, drugs, pesticides, and tobacco. However, some individuals may present a complete deletion of these genes and, consequently, an enzyme deficiency leading to an inadequate metabolism and, therefore, a higher susceptibility to some clinical conditions. Interethnic variations have also been described for both genes, making necessary the study of the deletion frequencies of and in different populations around the world. So, the aim of this study was to enable the synthesis and discussion of the main population differences of and polymorphisms in healthy volunteers. Searches were performed in the PubMed database, including 533 articles and 178,566 individuals in the analyses. We found an overrepresentation of European individuals and studies, and an underrepresentation of non-European ethnicities. Moreover, there are significant frequency differences among distinct ethnic groups: East Asians present the highest frequencies worldwide for and deletions, which could suggest higher disorders risk for this population; in contrast, Sub-Saharan Africans presented the lowest frequency of worldwide, corroborating evolution inferences performed previously for other genes codifying metabolism enzymes. Also, admixture is a relevant component when analyzing frequency values for both genes, but further studies focusing on this subject are warranted.
和基因编码同名酶，这些酶负责对几种可能对人体有害的物质进行解毒，如空气污染、药物、农药和烟草。然而，一些个体可能会出现这些基因的完全缺失，从而导致酶缺乏，进而导致代谢不足，因此对某些临床病症的易感性更高。这两个基因也存在种族间差异，因此有必要研究全球不同人群中和的缺失频率。所以，本研究的目的是对健康志愿者中和基因多态性的主要人群差异进行综合和讨论。在PubMed数据库中进行了检索，分析中包括533篇文章和178566名个体。我们发现欧洲个体和研究占比过高，而非欧洲种族占比过低。此外，不同种族群体之间存在显著的频率差异：东亚人在全球范围内和基因缺失的频率最高，这可能表明该人群患病风险更高；相比之下，撒哈拉以南非洲人在全球范围内**基因缺失的频率最低，这与之前对其他编码代谢酶的基因所做的进化推断相符。此外，在分析这两个基因的频率值时，基因混合是一个相关因素，但仍需要进一步针对该主题进行研究。
