RESUMO
OBJECTIVE@#To investigate the polymorphism of cholecystokinin (CCK) gene -45C/T of schizophrenia and its application in forensic medicine.@*METHODS@#Bidirectional allele specific PCR was used to detect CCK gene -45C/T polymorphisms in 207 schizophrenic patients (case group) and 202 healthy individuals (control group) of the Han population in northern China. The chi2 test was used to identify Hardy-Weinberg equilibrium of the genotype distribution in control group. The differences of genotype and allele frequencies distributions were compared between two groups.@*RESULTS@#Distributions of the genotype frequencies satisfied the law of Hardy-Weinberg equilibrium in control group. The differences between genotypic frequencies and allele frequencies were not statistical significance in case group and control groups (P > 0.05). Gender-stratified analysis showed that frequency of allele T in female case group was statistically higher than that in female control group (P = 0.044).@*CONCLUSION@#CCK gene -45C/T locus T allele may be positively associated with schizophrenia in female population and useful in schizophrenia identification.
Assuntos
Feminino , Humanos , Masculino , Alelos , Povo Asiático/genética , Estudos de Casos e Controles , China , Colecistocinina/genética , Genética Forense , Psiquiatria Legal , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Reação em Cadeia da Polimerase , Polimorfismo Genético , Esquizofrenia/genética , Análise de Sequência de DNARESUMO
Panic disorder is one of the chronic and disabling anxiety disorders. There has been evidence for either genetic heterogeneity or complex inheritance, with environmental factor interactions and multiple single genes, in panic disorder's etiology. Linkage studies have implicated several chromosomal regions, but no research has replicated evidence for major genes involved in panic disorder. Researchers have suggested several neurotransmitter systems are related to panic disorder. However, to date no candidate gene association studies have established specific loci. Recently, researchers have emphasized genome-wide association studies. Results of two genome-wide association studies on panic disorder failed to show significant associations. Evidence exists for differences regarding gender and ethnicity in panic disorder. Increasing evidence suggests genes underlying panic disorder overlap, transcending current diagnostic boundaries. In addition, an anxious temperament and anxiety-related personality traits may represent intermediate phenotypes that predispose to panic disorder. Future research should focus on broad phenotypes, defined by comorbidity or intermediate phenotypes. Genome-wide association studies in large samples, studies of gene-gene and gene-environment interactions, and pharmacogenetic studies are needed.
Assuntos
Humanos , Catecol O-Metiltransferase/genética , Colecistocinina/genética , Loci Gênicos , Estudo de Associação Genômica Ampla , Monoaminoxidase/genética , Transtorno de Pânico/genéticaRESUMO
Cholecystokinin (CCK) is a brain-gut peptide with broad biological activities. It is one of the main regulating hormones in the digestive system, and it plays an important physiological role in the central and peripheral nervous system as a neurotransmitter or a neuromodulator. Recently, many reports have demonstrated that there were a number of SNPs on CCK gene, of which -45C/T and -196G/A showed certain correlation with a variety of psychiatric states such as schizophrenia, depressive disorder, suicidal behavior, Parkinson's disease, etc. These SNPs may be used in paternity testing and personal identification. In addition, it may also become one of the auxiliary indicators in some special cases of forensic pathology.