CYP1A1 m1 and m2 polymorphisms: genetic susceptibility to lung cancer
Polimorfismos dos alelos m1 e m2 do gene CYP1A1: Susceptibilidade genética para o cancro do pulmão
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D. Medical Genetics – Instituto de Genética" "etiqueta" => "<span class="elsevierStyleSup">6</span>" "identificador" => "aff0030" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Instituto de Genética. Faculdade de Medicina, Rua Larga, 3000 Coimbra." ] ] ] ] "titulosAlternativos" => array:1 [ "pt" => array:1 [ "titulo" => "Polimorfismos dos alelos m1 e m2 do gene CYP1A1: Susceptibilidade genética para o cancro do pulmão" ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2009-04-28" "fechaAceptado" => "2009-06-08" "PalabrasClave" => array:2 [ "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Key-words" "identificador" => "xpalclavsec160568" "palabras" => array:5 [ 0 => "Lung cancer" 1 => "smoking" 2 => "cytochrome P450" 3 => "CYP1A1" 4 => "linkage disequilibrium" ] ] ] "pt" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palavras-chave" "identificador" => "xpalclavsec160569" "palabras" => array:5 [ 0 => "Cancro do pulmão" 1 => "tabaco" 2 => "citocromo p450" 3 => "CYP1A1" 4 => "desequilíbrio de ligação" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "en" => array:2 [ "titulo" => "Abstract" "resumen" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Lung cancer is considered an environment-related disease that develops as a consequence of exposure to mutagenic agents, namely those present in tobacco. The CYP1A1 gene codifies the phase I enzyme aryl hydrocarbon hydroxilase (AHH) belonging to the cytochrome P450 system that plays a major role in the bio-activation of tobacco procarcinogenes. Two CYP1A1 polymorphisms, m1 (T6235C transition) and m2 (A4889G transition), are associated with greater enzymatic activity and have been described as genetic susceptibility factors for lung cancer.</p><p id="spar0520" class="elsevierStyleSimplePara elsevierViewall">The aim of this study was to verify if this association holds true in blood samples of 175 lung cancer patients and 217 non-cancer patients from Portugal's midlands region. The samples were studied by restriction fragment length polymorphism (RFLP) assay.</p><p id="spar0505" class="elsevierStyleSimplePara elsevierViewall">The allelic frequencies of the mutant alleles were 0.12 for allele C and 1.14 for allele G in the control population. The results were not statistically different from those alleles in the patient population. There was also no statistically significant difference in genotype distribution in lung cancer patients and controls even when combining high risk genotypes. In our control sample, as in other populations of different ethnic origin, both polymorphisms also seem to be in linkage disequilibrium. We conclude that in this sample of the Portuguese population, CYP1A1 m1 and m2 polymorphisms are too rare to be of clinical relevance, and do not seem to be associated with susceptibility to lung cancer.</p>" ] "pt" => array:2 [ "titulo" => "Resumo" "resumen" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">O cancro do pulmão é considerado uma doença relacionada com o meio ambiente, consequência da exposição a agentes mutagénicos, nomeadamente os presentes no fumo do tabaco. O gene CYP1A1 codifica a enzima aril hidrocarboneto hidroxilase (AHH), da fase I, do sistema multienzimático do citocromo P450, que desempenha uma função preponderante na bioactivação dos procarcinogénios do tabaco. Dois polimorfismos do CYP1A1, m1 (transição T6235C) e m2 (transição A4889G), estão associados a uma maior actividade enzimática, tendo sido referidos como factores genéticos de susceptibilidade para o cancro do pulmão.</p><p id="spar0500" class="elsevierStyleSimplePara elsevierViewall">Este trabalho teve como objectivo verificar esta possível associação em 175 doentes com cancro do pulmão e 217 controlos da Região Centro de Portugal, por RFLP (polimorfismo de comprimento de fragmentos de restrição).</p><p id="spar0510" class="elsevierStyleSimplePara elsevierViewall">Foi encontrada a seguinte distribuição para as frequências alélicas: 0.12 e 1.14, para os alelos mutados C e G, respectivamente, na população controlo. Os resultados não revelaram significado estatístico quando comparados com a distribuição encontrada na população de doentes. Relativamente à distribuição genotípica, a situação foi semelhante, não se registando significado estatístico, mesmo quando foram considerados genótipos de alto risco. Tal como noutras populações de diferente origem étnica, parece existir desequilíbrio de ligação para ambos os polimorfimos na população-controlo. Concluímos que nesta amostra de população portuguesa os polimorfismos m1 e m2 de CYP1A1 são particularmente raros, parecendo não existir relevância clínica nem associação à susceptibilidade ao cancro do pulmão.</p>" ] ] "bibliografia" => array:2 [ "titulo" => "Bibliography" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:39 [ 0 => array:3 [ "identificador" => "bib1" "etiqueta" => "1." 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| Year/Month | Html | Total | |
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