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Doctoral Thesis
DOI
10.11606/T.22.2012.tde-15012013-101001
Document
Author
Full name
Felícia Bighetti Sarrassini
E-mail
Institute/School/College
Knowledge Area
Date of Defense
Published
Ribeirão Preto, 2012
Supervisor
Committee
Ribeiro, Rosane Pilot Pessa (President)
Claudino, Angélica de Medeiros
Santos, Jose Ernesto dos
Scrideli, Carlos Alberto
Silva Junior, Wilson Araújo da
Title in Portuguese
Identificação de polimorfismos de genes candidatos nos transtornos alimentares
Keywords in Portuguese
Anorexia nervosa
Bulimia nervosa
Genes
Polimorfismo genético
Transtornos da alimentação
Abstract in Portuguese
Os transtornos alimentares (TA) são quadros psiquiátricos graves, de etiologia multifatorial e a influência genética parece exercer importante papel. Três genes são candidatos em potencial para o desenvolvimento desses quadros e são investigados: o gene do receptor 5-hidroxitriptamina (5-HT2A), o do Fator Neurotrófico Derivado do Cérebro (BDNF) e do receptor ? do estrogênio (ER?). O objetivo deste estudo foi identificar a presença de polimorfismos (SNPs) desses genes em pacientes e ex-pacientes com TA (grupo de pacientes-GP) e em mulheres jovens saudáveis (grupo controle-GC) e foi realizado junto ao Grupo de Assistência em Transtornos Alimentares do Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto-USP. Coletaram-se os dados: idade, peso e altura para cálculo do índice de massa corporal (IMC) e aplicou-se o Eating Atitudes Test (EAT-26) para excluir possível caso de doença no GC (<21pontos). Os SNPs foram determinados pela técnica de reação em cadeia da polimerase (PCR). Para análises estatísticas, utilizou-se o Statistical Package for Social Sciences (SPSS, 20.0), nas variáveis contínuas (IMC e idade) usou-se o teste ANOVA, na variável dicotômica (presença ou não de SNPs), teste qui-quadrado e regressão logística binária (pa ). Como resultados, foram coletados dados de 29 indivíduos do GP e 78 do GC. A idade foi de 26,37±7,00 anos no GP e 28,65±6,67 anos no GC (p=0,274), o IMC foi de 20,83±4,47kg/m2 no GP e 21,56±1,67kg/m2 no GC (p=0,294), e o EAT-26 foi de 30,34±18,83 pontos no GP e 7,83±4,94 pontos no GC (p=0,000). Calcularam-se as frequências alélicas e genotípicas dos genes e foi feita análise que unia genótipos que possuíam alelos de risco para cada gene. No gene 5HT2A 75,8% do GP e 38,4% do GC apresentaram-se os genótipos com o alelo de risco (GA e AA) (pX2 =0,253; OR=1,964; IC95%=0,748-5,156 e pa =0,552). No do BDNF, encontraram-se frequências de 96,5% no GP e 96,1% no GC com os genótipos com alelo de risco, MM e MV (pX2 =1,00; OR=1,120; IC95%=0,112-11,221 e pa =0,362 ). No gene do ER?, para o SNP presente no éxon 5 (1082 G->A), as frequências dos genótipos de risco GA e AA foram de 6,8% no GP e 8,9% no GC (pX2 =1,00; OR=0,751; IC95%=0,147-3,841 e pa =0,883), e o SNP situado no éxon 8 (1730 A->G), as frequências dos genótipos de risco AG e AA foram de 65,5% no GP e 83,3% no GC (pX2 =0,064; OR=0,380; IC95%=0,144-1,002 e pa =0,399). Todas as análises não apresentaram diferença estatística significativa para a presença dos alelos de risco que podem contribuir para o desenvolvimento de TA. Concluiu-se que a heterogeneidade da população brasileira, a baixa incidência da doença e a amostra limitada do GP podem ter influenciado para as semelhanças entre os grupos. Futuros estudos, utilizando marcadores genéticos de etnias e amostras maiores, devem prosseguir na linha promissora da investigação etiológica.
Title in English
Identification of polymorphisms of candidate genes in eating disorders
Keywords in English
Anorexia nervosa
Bulimia nervosa
Eating disorders
Genes
Genetic polymorphisms
Abstract in English
Eating disorders (ED) are serious psychiatric conditions with multifactorial etiology, it seems genetic influence has an important role. Three genes were investigated: the receptor 5-hydroxitriptamine (5-HT2A), the Brain-Derived Neurotrophic Factor (BDNF) and the Estrogen Receptor ? (ER?). This study aims at identifying the presence of polymorphisms (SNPs) in patients or in ex-patients with ED (Group of patients - GP) and in wealthy women (Control Group - CG). The study was conducted with the Eating Disorders Assistence Group at Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto-USP. To calculate the Body Mass Index (BMI), we collected data referring to age, weight and height, we applied the Eating Attitudes Test (EAT-26) to exclude a possible occurrence of disease in the CG (<21 points). The polymerase chain reaction (PCR) was used to determine SNPs. For the statistical analysis we used the Statistical Package for Social Sciences (SPSS, 20.0): for the continuous variables (BMI and age), the ANOVA and for the dichotomous variable (presence or not of SNPs), Chi-square test and Binary logistic regression (pa ). There were 29 individuals of the GP and 78 of the CG. The age was 26,37±7,00 in the GP and 28,65±6,67 in the CG (p=0,274), the BMI was 20,83±4,47Kg/m2 in the GP and 21,56±1,67Kg/m2 in the CG (p=0,294), and the EAT-26 was 30,34±18,83 points in the GP e 7,83±4,94 points in the CG (p=0,000). We calculated the allelic and genotypic frequencies in the genes of the studied groups and afterwards we did an analysis that joined genotypes with risk alleles for each gene. The genes 5HT2A 75,8% of GP and 38,4% of the CG presented the genotype with risk allele (GA and AA) (pX2 =0,253; OR=1,964; IC95%=0,748-5,156 e pa =0,552). In the BDNF we found frequencies of 96,5% in the GP and 96,1% in the CG with genotypes with risk allele, MM and MV (pX2 =1,00); OR=1,120; IC95%=0,112-11,221 e pa =0,362). Regarding the gene ER?, for the SNP present in the exon 5 (1082 G->A), the frequency of risk genotypes GA and AA were of 6,8% in the GP and of 8,9% in the CG (pX2 =1,00; OR=0,751; IC95%=0,147-3,841 and pa =0,883), and for the SNP located in the exon 8 (1730 A->G), the frequency of risk genotypes AG and AA were of 65,5% in the GP and 83,3% in the CG (pX2 =0,064; OR=0,380; IC95%=0,144-1,002 e pa =0,399). There were no significant differences between the studied groups for the presence of risk alleles that may contribute to the development of ED. We concluded that heterogeneity of Brazilian population, the low incidence of the disease in it and the limited sample of GP may have influenced the similarities between the groups. Future studies using genetic markers of ethnicity and a wider sampling may contribute to the promising trend of etiologic investigation.
 
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Publishing Date
2013-02-01
 
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