Assuntos
Proteínas de Ligação a DNA/genética , Fator de Transcrição Ikaros/genética , Leucemia Mieloide Aguda/genética , Polimorfismo de Nucleotídeo Único/genética , Fatores de Transcrição/genética , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Humanos , Lactente , Recém-Nascido , PrognósticoAssuntos
Biomarcadores Tumorais/genética , Estudo de Associação Genômica Ampla , Polimorfismo de Nucleotídeo Único/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Adolescente , Estudos de Casos e Controles , França/epidemiologia , Humanos , Leucemia-Linfoma Linfoblástico de Células Precursoras/epidemiologia , PrognósticoRESUMO
Sex differences in asthma-associated phenotypes are well known but the genetic factors that may account for these differences have received little attention. This study aimed to characterize sex-specific and pleiotropic genetic factors underlying four quantitative phenotypes involved in the main asthma physiopathological pathways: immunoglobulin E levels, a measure of polysensitization (SPTQ), eosinophil counts and a measure of lung function FEV(1)/H(2) (forced expiratory volume in one second divided by height square). Sex-stratified univariate and bivariate linkage analyses were conducted in 295 families from the Epidemiological study on the Genetics and Environment of Asthma study. We found genome-wide significant evidence for a male-specific pleiotropic QTL (quantitative trait loci) on 5q31 (P=7 x 10(-9)) influencing both FEV(1)/H(2) and SPTQ and for a female-specific pleiotropic QTL on 11q23 underlying SPTQ and immunoglobulin E (P=2 x 10(-5)). Three other sex-specific regions of linkage were detected for eosinophil: 4q24 and 22q13 in females, and 3p25 in males. Further, bivariate association analysis of FEV(1)/H(2) and SPTQ with 5q31 candidate genes in males showed a significant association with two single-nucleotide polymorphisms within IL9 gene, rs2069885 and rs2069882 (P=0.02 and P=0.002, respectively, after Bonferroni's correction). This study underlies the importance of taking into account complex mechanisms, such as heterogeneity according to sex and pleiotropy to unravel the genes involved in asthma phenotypes.
Assuntos
Asma/genética , Eosinófilos/patologia , Ligação Genética , Imunoglobulina E/sangue , Interleucina-9/genética , Pulmão/fisiologia , Polimorfismo de Nucleotídeo Único/genética , Adolescente , Asma/sangue , Hiper-Reatividade Brônquica , Contagem de Células , Criança , Mapeamento Cromossômico , Cromossomos Humanos Par 11/genética , Cromossomos Humanos Par 22/genética , Cromossomos Humanos Par 4/genética , Feminino , Volume Expiratório Forçado/genética , Genoma Humano , Estudo de Associação Genômica Ampla , Genótipo , Humanos , Masculino , Repetições de Microssatélites , Fenótipo , Locos de Características Quantitativas , Testes de Função Respiratória , Fatores SexuaisRESUMO
BACKGROUND: Obesity seems to be very frequent among schizophrenics, partly due to psychotropic medications. To examine this possibility the authors compared the distribution of Body Mass Index and of Abdominal Obesity among an outpatient sample of schizophrenics, comparing their data with those of the Italian population as a whole. MATERIALS AND METHODS: Weight, height, BMI and waist circumference were evaluated in 126 schizophrenic spectrum outpatients (51 F; 75 M, mean age 43.7 +/- 13.3 yrs) receiving treatment in a university community mental health centre. RESULTS: Mean BMI of the sample was 26.8 +/- 4.9,without any significant difference between genders (females = 25.9 +/- 4.9; males = 27.4 +/- 4.9). The prevalence of obesity (BMI>or=30) in the sample was 26.2%, 2.8 times higher that of Italian average (9.8%). 46.8% out of the patients was affected by abdominal obesity measuring waist circumference, a prevalence 1.7 times higher that of the Italian average (31%). Abdominal obesity was significantly more frequent among females (F = 60.5%; M= 37.3%, p 0.05). 53% out of those patients who were under treatment with atypical antipsychotics respect to 25% of those who were not under treatment (p>0.05) and 71% of those who were submitted to an association of typical and atypical antipsychotics respect to those patients who were not treated with this association (p 0.05) were affected by abdominal obesity. CONCLUSIONS: Also in Italy schizophrenic were found more frequently obese than the corresponding general population. Female schizophrenics and patients who undergone treatment with atypical antipsychotics or with the combination of typical and atypical antipsychotics were significantly more at risk for abdominal obesity.
Assuntos
Gordura Abdominal , Antipsicóticos/efeitos adversos , Índice de Massa Corporal , Obesidade/induzido quimicamente , Esquizofrenia/tratamento farmacológico , Circunferência da Cintura , Aumento de Peso/efeitos dos fármacos , Adulto , Idoso , Antipsicóticos/administração & dosagem , Estatura , Peso Corporal/efeitos dos fármacos , Feminino , Humanos , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Obesidade/epidemiologia , Prevalência , Esquizofrenia/epidemiologia , Relação Cintura-QuadrilRESUMO
A study was made of the Hb phenotype of the Sardinian dwarfhorse (Equus caballus jara), one of the last surviving wild horse species in Europe. Hb haplotypes and their frequencies were found to be similar to those described in the Arabian horse (BI = 0.551, BII = 0.389, A = 0.036, V = 0.015), which suggests possible introduction onto the island from North Africa. The oxygen binding properties of the whole hemolysates and of the four different horse Hbs, separated by ion-exchange chromatography, were considered with regard to the effect of chloride, 2,3-bisphosphoglycerate and lactate. Results indicate that no differences exist in the four components that characterize horse Hb. The molecular basis of the intrinsically low oxygen affinity and of the weak interaction of horse Hb with 2,3-bisphosphoglycerate is discussed in the light of the primary structure of the molecule.