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Interações gene-ambiente envolvendo genes de metabolismo de xenobióticos e risco de HNSCC : uma revisão sistemática
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Abstract(s)
Introdução e objetivo: O carcinoma de células escamosas da cabeça e pescoço (HNSCC) é o sexto cancro mais prevalente mundialmente. Esta revisão sistemática teve como objetivo avaliar a evidência existente sobre as interações entre polimorfismos genéticos (SNPs) em genes de metabolismo de xenobióticos e fatores ambientais, bem como o papel dessas interações na suscetibilidade individual ao HNSCC. Materiais e Métodos: A prossecução desta revisão sistemática compreendeu a realização de uma busca nas bases de dados PubMed, Scopus e Web of Science, combinando termos MeSH e linguagem corrente. Incluíram-se estudos caso-controlo que analisaram interações entre SNPs em genes de metabolismo de xenobióticos e fatores ambientais associados ao risco de HNSCC. A revisão foi conduzida de acordo com os critérios PICO e as diretrizes PRISMA e registadas na base de dados PROSPERO (ID: 1076564). Os programas Rayyan e Excel foram utilizados para a extração e análise dos dados, respetivamente. Resultados: Dos 27 estudos incluídos (275 interações GxE), 138 apresentaram resultados estatisticamente significativos. As interações mais significativas envolveram genes da família CYP, outros genes de fase I e genes da família GST. Entre os fatores ambientais, destacaram-se o consumo de álcool, tabaco e o hábito de mascar tabaco. Os genes CYP1A1, CYP1B1 e CYP2E1 interagiram significativamente com os três consumos, enquanto GSTM1 e GSTT1 mostraram associações com álcool e mascar tabaco. Já GSTM1, GSTP1 e GSTT1 apresentaram interações relevantes com o tabaco. Entre os genes de fase I, ALDH1B, ADH1C e ALDH2 associaram-se particularmente ao consumo de álcool. Conclusão: A presença de SNPs em genes das famílias CYP e GST, entre outros, interage com o consumo de álcool, tabaco bem como o hábito de mascar tabaco, com impacto no risco de HNSCC. Estudos futuros com amostras maiores e populações diversificadas são necessários para confirmar estas associações e clarificar o seu impacto clínico.
Introduction and Objective: Head and neck squamous cell carcinoma (HNSCC) is the sixth most prevalent cancer worldwide. This systematic review aimed to evaluate the existing evidence on the interactions between genetic polymorphisms (SNPs) in xenobiotic metabolism genes and environmental factors, as well as the role of these interactions in individual susceptibility to HNSCC. Materials and Methods: This systematic review involved a comprehensive search of the PubMed, Scopus, and Web of Science databases, combining MeSH terms and free-text keywords. Case-control studies that analyzed interactions between SNPs in xenobiotic metabolism genes and environmental factors associated with HNSCC risk were included. The review was conducted according to the PICO criteria and PRISMA guidelines and was registered in the PROSPERO database (ID: 1076564). The software Rayyan and Excel were used for data extraction and analysis, respectively. Results: Of the 27 studies included (275 GxE interactions), 138 reported statistically significant results. The most significant interactions involved genes from the CYP family, other phase I genes, and genes from the GST family. Among environmental factors, alcohol consumption, tobacco use, and the habit of chewing tobacco were the most prominent. The genes CYP1A1, CYP1B1, and CYP2E1 showed significant interactions with all three exposures, whereas GSTM1 and GSTT1 were associated with alcohol consumption and tobacco chewing. GSTM1, GSTP1, and GSTT1 exhibited relevant interactions with tobacco use. Among phase I genes, ALDH1B, ADH1C, and ALDH2 were particularly associated with alcohol consumption. Conclusion: The presence of SNPs in genes from the CYP and GST families, among others, interacts with alcohol and tobacco consumption as well as the habit of chewing tobacco, influencing the risk of HNSCC. Future studies with larger sample sizes and more diverse populations are needed to confirm these associations and clarify their clinical relevance.
Introduction and Objective: Head and neck squamous cell carcinoma (HNSCC) is the sixth most prevalent cancer worldwide. This systematic review aimed to evaluate the existing evidence on the interactions between genetic polymorphisms (SNPs) in xenobiotic metabolism genes and environmental factors, as well as the role of these interactions in individual susceptibility to HNSCC. Materials and Methods: This systematic review involved a comprehensive search of the PubMed, Scopus, and Web of Science databases, combining MeSH terms and free-text keywords. Case-control studies that analyzed interactions between SNPs in xenobiotic metabolism genes and environmental factors associated with HNSCC risk were included. The review was conducted according to the PICO criteria and PRISMA guidelines and was registered in the PROSPERO database (ID: 1076564). The software Rayyan and Excel were used for data extraction and analysis, respectively. Results: Of the 27 studies included (275 GxE interactions), 138 reported statistically significant results. The most significant interactions involved genes from the CYP family, other phase I genes, and genes from the GST family. Among environmental factors, alcohol consumption, tobacco use, and the habit of chewing tobacco were the most prominent. The genes CYP1A1, CYP1B1, and CYP2E1 showed significant interactions with all three exposures, whereas GSTM1 and GSTT1 were associated with alcohol consumption and tobacco chewing. GSTM1, GSTP1, and GSTT1 exhibited relevant interactions with tobacco use. Among phase I genes, ALDH1B, ADH1C, and ALDH2 were particularly associated with alcohol consumption. Conclusion: The presence of SNPs in genes from the CYP and GST families, among others, interacts with alcohol and tobacco consumption as well as the habit of chewing tobacco, influencing the risk of HNSCC. Future studies with larger sample sizes and more diverse populations are needed to confirm these associations and clarify their clinical relevance.
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HNSCC Interações gene-ambiente Polimorfismos genéticos Xenobióticos Fatores ambientais Gene–environment interactions Genetic polymorphisms Xenobiotics Environmental factors
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