ABSTRACT
La esquizofrenia es una enfermedad con una marcada expresividad variable, que sugiere la existencia de factores etiológicos y procesos fisiopatológicos heterogéneos y donde se considera cada vez más la hipótesis de la interacción gen-ambiente como su principal modo de transmisión. Objetivo: determinar los posibles factores ambientales y genéticos asociados con en el debut de la esquizofrenia. Método: se realizó un estudio analítico observacional de casos y controles en el área de salud 28 de Septiembre del municipio Santiago de Cuba, durante el cuatrimestre enero-abril de 2011, que incluyó 40 casos con diagnóstico de esquizofrenia paranoide seleccionados mediante muestreo aleatorio estratificado por sexo y a 80 controles sin este diagnóstico. Se aplicó la prueba de chi cuadrado, se calculó la oportunidad relativa (odds ratio) y el intervalo de confianza. Resultados: el estado civil soltero resultó significativo al debut y en tres cuartas partes de los casos se constató algún acontecimiento estresante al inicio de la misma. Hubo asociación de los antecedentes familiares de la afección en los casos; se registró un mayor número de familiares de primer grado afectados en ambos grupos, más significativo en el grupo de los casos, lo que explica la agregación familiar de la afección más frecuentemente en las personas que padecen la enfermedad. Conclusiones: existió asociación de los antecedentes familiares de la enfermedad en los pacientes con esquizofrenia paranoide; hubo mayor porcentaje de personas afectadas en familiares de primer grado en ambos grupos; se observó agregación familiar de la enfermedad; los antecedentes prenatales aumentaron el riesgo de la enfermedad y los patrones premórbidos desde la niñez resultaron altamente significativos...
Schizophrenia is an illnes that is marked by a variable expressiveness wihc suggests the existence of heterogeneus etiological factors and physiopathological processes. A hypothesis of gene-enviroment interaction is being considered as it main way of transmission. Objetive: to determine the possible enviroment and genetic factors associated with the illness onset. Methods: it carriedout an analytical-observational study of cases and controls on the area 28 de Septiembre of Santiago de Cuba during the four month period of january-april of 2011.It included 40 patients with a diagnosis of paranoic schizophrenia recorded on the Psychiatrist service selected randomly stratified by sex, as well as 80 controls without this diagnosis to determine the possible enviromental and genetic factors that could have influenced on the appearance of the disease. Chi square test was applied and the relative opportunity (odds ratio) by trist interval. Results: the civil status of single resulted significative at the appearing and three quarters of the cases studied presented a stressing went at the beginning of the disease. there was an asociation of the familiar antecedents of the affection in the cases. It was recorded a greater percentage affected persons in familiar of first degree in both groups difference that resulted to be more significative on the cases. It was also observed familiar addition of the affection more frequent on the cases than of the control. Conclusions: it was demonstrated that there is an association of the family antecedents of the illness in all the cases. There was more percent of affected people in first degree families in both groups. Family illness aggregation was observed. Prenatal antecedents increase the risk and pre-morbid patterns since childhood were hightly significant...
Subject(s)
Humans , Male , Female , Schizophrenia, Paranoid/genetics , Schizophrenia, Paranoid/psychology , Analytical Epidemiology , Observational Studies as TopicABSTRACT
OBJECTIVE@#To investigate the single nucleotide polymorphisms (SNP) of -855 G/C and -1140 G/A in promoter regions of GRIN1 gene and find their genetic correlation to paranoid schizophrenia as well as their applicable values in forensic medicine.@*METHODS@#The genetic polymorphisms of -855 G/C and -1140 G/A at the 5' end of GRIN1 gene were detected by PCR restriction fragment length polymorphism and PAGE in 183 healthy unrelated individuals of northern Chinese Han population and 172 patients of paranoid schizophrenia, respectively. The chi2 test was used to identify Hardy-Weinberg equilibrium of the genotype distribution. The differences of genotypes and allelic frequency distributions were compared between the two groups.@*RESULTS@#Distributions of the genotypic frequencies satisfied Hardy-Weinberg equilibrium in both groups. The difference of genotypes was statistically significant between female patient group and female control group in -855 G/C distribution (P < 0.05). The differences of genotypes and allelic frequencies were statistically significant not only between the patient group and the control group but also between female patient group and female control group in -1140 G/A distribution (P < 0.05).@*CONCLUSION@#The SNP of -1140 G/A in promoter regions of GRIN1 gene might positively correlate to paranoid schizophrenia. The genetic factor of schizophrenia is involved in gender tendency. And it could be useful in forensic identification of schizophrenia.
Subject(s)
Female , Humans , Male , Alleles , Asian People/genetics , Base Sequence , Gene Frequency , Genetic Predisposition to Disease/genetics , Genotype , Nerve Tissue Proteins/genetics , Polymerase Chain Reaction , Polymorphism, Restriction Fragment Length , Polymorphism, Single Nucleotide , Promoter Regions, Genetic , Receptors, N-Methyl-D-Aspartate/genetics , Schizophrenia, Paranoid/genetics , Sequence Analysis, DNAABSTRACT
OBJECTIVE@#To investigate the population genetic data of 3 SNP loci (rs25533, rs34388196 and rs1042173) of 5-hydroxytryptamine transporter (5-HTT) gene and the association with paranoid schizophrenia.@*METHODS@#Three SNP loci of 5-HTT gene were examined in 132 paranoid schizophrenia patients and 150 unrelated healthy individuals of Northern Chinese Han population by PCR-RFLP technique. The Hardy-Weinberg equilibrium test was performed using the chi-square test and the data of haplotype frequency and population genetics parameters were statistically analyzed.@*RESULTS@#Among these three SNP loci, four haplotypes were obtained. There were no statistically significant differences between the patient group and the control group (P > 0.05). The DP values of the 3 SNP loci were 0.276, 0.502 and 0.502. The PIC of them were 0.151, 0.281 and 0.281. The PE of them were 0.014, 0.072 and 0.072.@*CONCLUSION@#The three SNP loci and four haplotypes of 5-HTT gene have no association with paranoid schizophrenia, while the polymorphism still have high potential application in forensic practice.
Subject(s)
Adult , Female , Humans , Male , Asian People/genetics , Case-Control Studies , Gene Frequency , Genetic Predisposition to Disease , Genotype , Haplotypes , Polymerase Chain Reaction/methods , Polymorphism, Single Nucleotide/genetics , Schizophrenia, Paranoid/genetics , Serotonin Plasma Membrane Transport Proteins/geneticsABSTRACT
Los estudios con tomografía por emisión de positores y los estudios postmortem indican que por lo menos un grupo de pacientes esquizofrénicos experimentan un aumento en la densidad de los receptores para la dopamina (tipo D2) a nivel central. Recientemente Bondy y Cols. (3) informaron que este incremento también podría observarse en los linfocitos de estos pacientes y que, además, pudiera ser un marcador de vulnerabilidad, es decir, una característica que se hereda junto con la propensión a padecer la enfermedad. Es evidente que, de ser esto cierto, constituiría un hallazgos trascedental en el estudio de tan devastaddora enfermedad. Sin embargo, la evidencia sobre los sitios de un unión dopaminérgicos en los linfocitos es muy controvertida ya que algunos autores (12) no han podido demostrar la unión específica de ligandos dopaminérgicos en estas células, por lo que en este trabajo estudiamos la unión de 3H-espiperona en linfocitos de pacientes esquizofrénicos y en voluntarios sanos