Polimorfismos dos genes ADA e CNTNAP2 em indivíduos com Transtornos do Espectro do Autismo
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Data
2014-02-20
Autores
Nascimento, Patrícia Pereira do [UNESP]
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Universidade Estadual Paulista (Unesp)
Resumo
Os Transtornos do Espectro do Autismo (TEA) são afecções neuropsiquiátricas graves que se caracterizam por dificuldades, de início precoce, no domínio da comunicação social, por comportamentos atípicos, repetitivos e interesses restritos. Em cerca de 10 a 25% dos casos a etiologia pode ser esclarecida, o que reflete a natureza complexa e heterogênea da doença. Embora diversos fatores ambientais estejam relacionados com a etiopatogenia, muitos estudos, inclusive com gêmeos, mostram que a participação dos fatores genéticos é inequívoca. A literatura tem revelado, de maneira progressiva, muitos genes e variantes genéticas relacionados com a predisposição a estas afecções. Polimorfismos de nucleotídeo único (SNPs) têm sido considerados marcadores genéticos de predisposição a várias doenças complexas, o que sugere que também podem estar relacionados aos TEA. Há referências da associação de variantes comuns do gene sináptico CNTNAP2 com diferentes fenótipos neuropsiquiátricos e alterações no desenvolvimento da linguagem. SNPs do gene ADA, envolvido em neurotransmissão e metabolismo das purinas, também já foram associados a uma diminuição de atividade enzimática e predisposição ao fenótipo autista. Este estudo objetivou avaliar SNPs destes dois genes em autistas e controles, para investigar uma possível associação com o fenótipo comportamental. Foram avaliados dois SNPs (rs7794745 e rs2710102) do gene CNTNAP2 e o SNP G22A do gene ADA, genotipados em 210 indivíduos com TEA idiopático e em 200 indivíduos controles. A análise molecular foi feita por reação em cadeia da polimerase – polimorfismo de fragmentos de restrição (PCR-RFLP). Para análise estatística foi adotado nível de significância de 5%. Os resultados revelaram associação entre o SNP rs7794745 (OR=1,802, IC95%=1,054-3,083, p=0,042) em homozigose (TT) com a predisposição aos TEA na população estudada. Os indivíduos do sexo ...
Autism Spectrum Disorders (ASD) are severe neuropsychiatric disorders characterized by difficulties with early onset, in the field of social communication, atypical behaviors, restricted and repetitive interests. In about 10-25% of cases the etiology can be clarified, which reflects the complex and heterogeneous nature of the disease. Although several environmental factors are related to the pathogenesis, many studies, including twins, have showed that the involvement of genetic factors is clear. The literature has revealed, progressively, many genes and genetic variants related to the predisposition to these disorders. Single nucleotide polymorphisms (SNPs) have been considered genetic markers of predisposition to various diseases complex, suggesting that can also be related to ASD. There are references of association the common variants of the CNTNAP2 synaptic gene with different neuropsychiatric phenotypes and changes in language development. SNPs of ADA gene, involved in neurotransmission and metabolism of purines, have also been associated with a decrease in enzyme activity and predisposition to autism phenotype. This study aimed to evaluate SNPs of these two genes in autistic patients to investigate a possible association with the behavioral phenotype. It was evaluated two SNPs (rs7794745 and rs2710102) of the CNTNAP2 gene and the SNP G22A of the ADA gene, genotyped in 210 individuals with idiopathic ASD and 200 control subjects. Molecular analysis was performed by polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP). A 5% alpha error was considered significant in statistical analysis. The results revealed association between the SNP rs7794745 (OR = 1.802; 95%CI = 1.054 - 3.083; p = 0.042) in homozygous (TT) with predisposition to ASD at our study population. Affected individuals males also showed a significantly higher frequency of this polymorphism (p = 0.021) compared to men in the control group. For ...
Autism Spectrum Disorders (ASD) are severe neuropsychiatric disorders characterized by difficulties with early onset, in the field of social communication, atypical behaviors, restricted and repetitive interests. In about 10-25% of cases the etiology can be clarified, which reflects the complex and heterogeneous nature of the disease. Although several environmental factors are related to the pathogenesis, many studies, including twins, have showed that the involvement of genetic factors is clear. The literature has revealed, progressively, many genes and genetic variants related to the predisposition to these disorders. Single nucleotide polymorphisms (SNPs) have been considered genetic markers of predisposition to various diseases complex, suggesting that can also be related to ASD. There are references of association the common variants of the CNTNAP2 synaptic gene with different neuropsychiatric phenotypes and changes in language development. SNPs of ADA gene, involved in neurotransmission and metabolism of purines, have also been associated with a decrease in enzyme activity and predisposition to autism phenotype. This study aimed to evaluate SNPs of these two genes in autistic patients to investigate a possible association with the behavioral phenotype. It was evaluated two SNPs (rs7794745 and rs2710102) of the CNTNAP2 gene and the SNP G22A of the ADA gene, genotyped in 210 individuals with idiopathic ASD and 200 control subjects. Molecular analysis was performed by polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP). A 5% alpha error was considered significant in statistical analysis. The results revealed association between the SNP rs7794745 (OR = 1.802; 95%CI = 1.054 - 3.083; p = 0.042) in homozygous (TT) with predisposition to ASD at our study population. Affected individuals males also showed a significantly higher frequency of this polymorphism (p = 0.021) compared to men in the control group. For ...
Descrição
Palavras-chave
Genetica humana, Polimorfismo (Genetica), Autismo, Transtornos do espectro do autismo, Genes, Predisposição genética para doença, Genetic polymorphisms
Como citar
NASCIMENTO, Patrícia Pereira do. Polimorfismos dos genes ADA e CNTNAP2 em indivíduos com Transtornos do Espectro do Autismo. 2014. 89 f. Dissertação (mestrado) - Universidade Estadual Paulista Julio de Mesquita Filho, Instituto de Biociências, Letras e Ciências Exatas, 2014.