RESUMO
We hypothesize that circadian dysfunction could underlie, at least partially, the liability for bipolar 1 disorder (BD1). Our hypothesis motivated tests for the association between the polymorphisms of genes that mediate circadian function and liability for BD1. The US Caucasian patients with BD1 (DSM-IV criteria) and available parents were recruited from Pittsburgh and surrounding areas (n = 138 cases, 196 parents) and also selected from the NIMH Genetics Collaborative Initiative (n = 96 cases, 192 parents). We assayed 44 informative single-nucleotide polymorphisms (SNPs) from eight circadian genes in the BD1 samples. A population-based sample, specifically cord blood samples from local live births, served as community-based controls (n = 180). It was used as a contrast for genotype and haplotype distributions with those of patients. US patients with schizophrenia/schizoaffective disorder (SZ/SZA, n = 331) and available parents from Pittsburgh (n = 344) were assayed for a smaller set of SNPs based on the results from the BD1 samples. Modest associations with SNPs at ARNTL (BmaL1) and TIMELESS genes were observed in the BD1 samples. The associations were detected using family-based and case-control analyses, albeit with different SNPs. Associations with TIMELESS and PERIOD3 were also detected in the Pittsburgh SZ/SZA group. Thus far, evidence for association between specific SNPs at the circadian gene loci and BD1 is tentative. Additional studies using larger samples are required to evaluate the associations reported here.
Assuntos
Transtorno Bipolar/genética , Transtornos Cronobiológicos/complicações , Transtornos Cronobiológicos/genética , Ritmo Circadiano/genética , Predisposição Genética para Doença/genética , Esquizofrenia/genética , Fatores de Transcrição ARNTL , Fatores de Transcrição Hélice-Alça-Hélice Básicos/genética , Relógios Biológicos/genética , Transtorno Bipolar/fisiopatologia , Química Encefálica/genética , Estudos de Casos e Controles , Proteínas de Ciclo Celular , Transtornos Cronobiológicos/fisiopatologia , Análise Mutacional de DNA , Feminino , Regulação da Expressão Gênica/genética , Testes Genéticos , Genoma Humano/genética , Humanos , Recém-Nascido , Peptídeos e Proteínas de Sinalização Intracelular , Masculino , Proteínas do Tecido Nervoso/genética , Proteínas Nucleares/genética , Proteínas Circadianas Period , Polimorfismo de Nucleotídeo Único/genética , Transtornos Psicóticos/genética , Transtornos Psicóticos/fisiopatologia , Esquizofrenia/fisiopatologia , Fatores de Transcrição/genéticaRESUMO
Four recently available kits of guaiac resin-impregnated paper for demonstrating the presence of blood in faeces were compared with Hemoccult II in in vitro testing. Hemo-FEC most closely resembled Hemoccult II in its sensitivity with freshly prepared kits and kits prepared one week earlier with or without rehydration before testing. Gamma Fe-Cult and Fecatest were more sensitive than Hemoccult II whereas Camco-Pac Guaiac was much less sensitive. Rehydration of kits prepared several days beforehand appears to be useful in restoring sensitivity lost by all the kits tested.
