<i>UGT1A1</i> Gene Polymorphism Contributes as a Risk Factor for Lung Cancer: A Pilot Study with Patients from the Amazon
Lung cancer is one of the most frequent neoplasms in the world. Because it is a complex disease, its formation occurs in several stages, stemming from interactions between environmental risk factors, such as smoking, and individual genetic susceptibility. Our objective was to investigate association...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-03-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/13/3/493 |
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| author | Esdras E. B. Pereira Luciana P. C. Leitão Roberta B. Andrade Antônio A. C. Modesto Bruno M. Fernandes Rommel M. R. Burbano Paulo P. Assumpção Marianne R. Fernandes João F. Guerreiro Sidney E. B. dos Santos Ney P. C. dos Santos |
| author_facet | Esdras E. B. Pereira Luciana P. C. Leitão Roberta B. Andrade Antônio A. C. Modesto Bruno M. Fernandes Rommel M. R. Burbano Paulo P. Assumpção Marianne R. Fernandes João F. Guerreiro Sidney E. B. dos Santos Ney P. C. dos Santos |
| author_sort | Esdras E. B. Pereira |
| collection | DOAJ |
| description | Lung cancer is one of the most frequent neoplasms in the world. Because it is a complex disease, its formation occurs in several stages, stemming from interactions between environmental risk factors, such as smoking, and individual genetic susceptibility. Our objective was to investigate associations between a <i>UGT1A1</i> gene polymorphism (rs8175347) and lung cancer risk in an Amazonian population. This is a pilot study, case-controlled study, which included 276 individuals with cancer and without cancer. The samples were analyzed for polymorphisms of the <i>UGT1A1</i> gene (rs8175347) and genotyped in PCR, followed by fragment analysis in which we applied a previously developed set of informative ancestral markers. We used logistic regression to identify differences in allelic and genotypic frequencies between individuals. Individuals with the TA7 allele have an increased chance of developing lung adenocarcinoma (<i>p</i> = 0.035; OR: 2.57), as well as those with related genotypes of reduced or low enzymatic activity: TA6/7, TA5/7, and TA7/7 (<i>p</i> = 0.048; OR: 8.41). Individuals with homozygous TA7/7 have an increased chance of developing squamous cell carcinoma of the lung (<i>p</i> = 0.015; OR: 4.08). Polymorphism in the <i>UGT1A1</i> gene (rs8175347) may contribute as a risk factor for adenocarcinoma and lung squamous cell carcinoma in the population of the Amazon region. |
| first_indexed | 2024-03-09T19:48:04Z |
| format | Article |
| id | doaj.art-2e6e9a6bf00549c98835762557a872e0 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-09T19:48:04Z |
| publishDate | 2022-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-2e6e9a6bf00549c98835762557a872e02023-11-24T01:19:05ZengMDPI AGGenes2073-44252022-03-0113349310.3390/genes13030493<i>UGT1A1</i> Gene Polymorphism Contributes as a Risk Factor for Lung Cancer: A Pilot Study with Patients from the AmazonEsdras E. B. Pereira0Luciana P. C. Leitão1Roberta B. Andrade2Antônio A. C. Modesto3Bruno M. Fernandes4Rommel M. R. Burbano5Paulo P. Assumpção6Marianne R. Fernandes7João F. Guerreiro8Sidney E. B. dos Santos9Ney P. C. dos Santos10Laboratory of Human and Medical Genetics, Institute of Biological Science, Federal University of Pará, Belem 66077-830, BrazilOncology Research Center, Federal University of Pará, Belem 66073-005, BrazilLaboratory of Human and Medical Genetics, Institute of Biological Science, Federal University of Pará, Belem 66077-830, BrazilLaboratory of Human and Medical Genetics, Institute of Biological Science, Federal University of Pará, Belem 66077-830, BrazilOncology Research Center, Federal University of Pará, Belem 66073-005, BrazilLaboratory of Human and Medical Genetics, Institute of Biological Science, Federal University of Pará, Belem 66077-830, BrazilOncology Research Center, Federal University of Pará, Belem 66073-005, BrazilOncology Research Center, Federal University of Pará, Belem 66073-005, BrazilLaboratory of Human and Medical Genetics, Institute of Biological Science, Federal University of Pará, Belem 66077-830, BrazilLaboratory of Human and Medical Genetics, Institute of Biological Science, Federal University of Pará, Belem 66077-830, BrazilLaboratory of Human and Medical Genetics, Institute of Biological Science, Federal University of Pará, Belem 66077-830, BrazilLung cancer is one of the most frequent neoplasms in the world. Because it is a complex disease, its formation occurs in several stages, stemming from interactions between environmental risk factors, such as smoking, and individual genetic susceptibility. Our objective was to investigate associations between a <i>UGT1A1</i> gene polymorphism (rs8175347) and lung cancer risk in an Amazonian population. This is a pilot study, case-controlled study, which included 276 individuals with cancer and without cancer. The samples were analyzed for polymorphisms of the <i>UGT1A1</i> gene (rs8175347) and genotyped in PCR, followed by fragment analysis in which we applied a previously developed set of informative ancestral markers. We used logistic regression to identify differences in allelic and genotypic frequencies between individuals. Individuals with the TA7 allele have an increased chance of developing lung adenocarcinoma (<i>p</i> = 0.035; OR: 2.57), as well as those with related genotypes of reduced or low enzymatic activity: TA6/7, TA5/7, and TA7/7 (<i>p</i> = 0.048; OR: 8.41). Individuals with homozygous TA7/7 have an increased chance of developing squamous cell carcinoma of the lung (<i>p</i> = 0.015; OR: 4.08). Polymorphism in the <i>UGT1A1</i> gene (rs8175347) may contribute as a risk factor for adenocarcinoma and lung squamous cell carcinoma in the population of the Amazon region.https://www.mdpi.com/2073-4425/13/3/493genetic polymorphism<i>UGT1A1</i>biomarkerlung cancersmoking |
| spellingShingle | Esdras E. B. Pereira Luciana P. C. Leitão Roberta B. Andrade Antônio A. C. Modesto Bruno M. Fernandes Rommel M. R. Burbano Paulo P. Assumpção Marianne R. Fernandes João F. Guerreiro Sidney E. B. dos Santos Ney P. C. dos Santos <i>UGT1A1</i> Gene Polymorphism Contributes as a Risk Factor for Lung Cancer: A Pilot Study with Patients from the Amazon Genes genetic polymorphism <i>UGT1A1</i> biomarker lung cancer smoking |
| title | <i>UGT1A1</i> Gene Polymorphism Contributes as a Risk Factor for Lung Cancer: A Pilot Study with Patients from the Amazon |
| title_full | <i>UGT1A1</i> Gene Polymorphism Contributes as a Risk Factor for Lung Cancer: A Pilot Study with Patients from the Amazon |
| title_fullStr | <i>UGT1A1</i> Gene Polymorphism Contributes as a Risk Factor for Lung Cancer: A Pilot Study with Patients from the Amazon |
| title_full_unstemmed | <i>UGT1A1</i> Gene Polymorphism Contributes as a Risk Factor for Lung Cancer: A Pilot Study with Patients from the Amazon |
| title_short | <i>UGT1A1</i> Gene Polymorphism Contributes as a Risk Factor for Lung Cancer: A Pilot Study with Patients from the Amazon |
| title_sort | i ugt1a1 i gene polymorphism contributes as a risk factor for lung cancer a pilot study with patients from the amazon |
| topic | genetic polymorphism <i>UGT1A1</i> biomarker lung cancer smoking |
| url | https://www.mdpi.com/2073-4425/13/3/493 |
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