Assuntos
Butirilcolinesterase/genética , Diabetes Mellitus Tipo 1/genética , Diabetes Mellitus Tipo 2/genética , Variação Genética/genética , Adolescente , Idade de Início , Alelos , Criança , Diabetes Mellitus Tipo 1/enzimologia , Diabetes Mellitus Tipo 2/enzimologia , Predisposição Genética para Doença , HumanosRESUMO
OBJECTIVE: To investigate the association between butyrylcholinesterase (BChE) activities (total and band specific) and body mass index (BMI) in obese and nonobese individuals, considering other variables (anthropometric, biochemical and hormonal) and the leanness process. SUBJECTS: Obese (BMI> or =30 kg/m(2); N=181) and nonobese individuals (N=265), classified according to the CHE2 locus phenotypes, with the obese patients being followed-up when submitted to a weight-loss program. MEASUREMENTS: Anthropometric (weight, height, BMI, waist, waist/hip ratio-WHR, triceps and subscapular skinfolds, percentage of body fat and arterial pressures), hormonal (insulin, estradiol-E(2), triiodothyronine-T(3) and thyroxine-T(4)) and biochemical (glucose, total cholesterol, HDL-C, triglycerides, uric acid, urea, creatinine, sodium, potassium and BChE activities) variables. RESULTS: Although obese CHE2 C5- individuals presented higher mean BChE activities than their CHE2 C5- controls and diminished mean activities with leanness, similar comparisons did not show any difference in the CHE2 C5+ group. Furthermore, the mean serum potassium values of obese individuals were significantly higher in the CHE2 C5+ than in the CHE2 C5- phenotype. The BChE activities were less related to BMI in obese CHE2 C5- individuals than in their controls. In the CHE2 C5- obese group, significant regression coefficients were found between BChE activity variables and BMI (+), ethnic origin (higher in Euro-Brazilians), sex (higher in males), diastolic pressure (-), triceps skinfold (+), total cholesterol (+), T(3) (+) and E(2) (-). The main findings in the CHE2 C5+ obese group: mean insulin levels decreased with leanness and a significant correlation was detected between the C(5) complex activity and creatinine (+), insulin (-) and WHR (-); a significantly higher frequency of weight loss occurred compared to the CHE2 C5- group. CONCLUSION: In the present study, different relations between obesity and some of the studied variables were found when CHE2 C5+ and CHE2 C5- individuals were compared.
Assuntos
Butirilcolinesterase/sangue , Colinesterases/genética , Obesidade/enzimologia , Adolescente , Adulto , Idoso , Antropometria , Índice de Massa Corporal , Feminino , Seguimentos , Humanos , Insulina/sangue , Masculino , Pessoa de Meia-Idade , Obesidade/genética , Obesidade/fisiopatologia , Fenótipo , Análise de Regressão , Redução de PesoRESUMO
An electrophoretic band with butyrylcholinesterase activity was detected in 71 CHE2 C5+ and 378 CHE2 C5- individuals and was named C4/5 in view of its similar mobility to either C4 or C5, depending on the pH of the agar gel used. The present data suggest that C4/5 is a heterologous complex of butyrylcholinesterase. Although the C4/5 band may have the same mobility as C5, depending on the conditions of electrophoresis, our hypothesis is that these two bands result from the association of BChE with different molecules.
Assuntos
Butirilcolinesterase/química , Butirilcolinesterase/genética , Butirilcolinesterase/sangue , Eletroforese em Gel de Ágar , Variação Genética/genética , Humanos , Concentração de Íons de Hidrogênio , Fenótipo , Solução Salina Hipertônica/farmacologiaRESUMO
Studies that consider polymorphisms within the apolipoprotein B (apo B) gene as risk factors for coronary artery disease (CAD) have reported conflicting results. The aim of the present study was to search for associations between two DNA RFLPs (XbaI and EcoRI) of the apo B gene and CAD diagnosed by angiography. In the present study we compared 116 Brazilian patients (92 men) with CAD (CAD+) to 78 control patients (26 men) without ischemia or arterial damage (CAD-). The allele frequencies at the XbaI (X) and EcoRI (E) sites did not differ between groups. The genotype distributions of CAD+ and CAD- patients were different (chi (1) = 6.27, P = 0.012) when assigned to two classes (X-X-/E+E+ and the remaining XbaI/EcoRI genotypes). Multivariate logistic regression analysis showed that individuals with the X-X-/E+E+ genotype presented a 6.1 higher chance of developing CAD than individuals with the other XbaI/EcoRI genotypes, independently of the other risk factors considered (sex, tobacco consumption, total cholesterol, hypertension, and triglycerides). We conclude that the X-X-/E+E genotype may be in linkage disequilibrium with an unknown variation in the apo B gene or with a variation in another gene that affects the risk of CAD.
Assuntos
Apolipoproteínas B/genética , Doença das Coronárias/genética , Desoxirribonuclease EcoRI/genética , Desoxirribonucleases de Sítio Específico do Tipo II/genética , Polimorfismo Genético/genética , Adulto , Alelos , Estudos de Casos e Controles , Estudos Transversais , Feminino , Marcadores Genéticos , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Polimorfismo de Fragmento de Restrição , Estudos Prospectivos , Fatores de RiscoRESUMO
Studies that consider polymorphisms within the apolipoprotein B (apo B) gene as risk factors for coronary artery disease (CAD) have reported conflicting results. The aim of the present study was to search for associations between two DNA RFLPs (XbaI and EcoRI) of the apo B gene and CAD diagnosed by angiography. In the present study we compared 116 Brazilian patients (92 men) with CAD (CAD+) to 78 control patients (26 men) without ischemia or arterial damage (CAD-). The allele frequencies at the XbaI (X) and EcoRI (E) sites did not differ between groups. The genotype distributions of CAD+ and CAD- patients were different (chi²(1) = 6.27, P = 0.012) when assigned to two classes (X-X-/E+E+ and the remaining XbaI/EcoRI genotypes). Multivariate logistic regression analysis showed that individuals with the X-X-/E+E+ genotype presented a 6.1 higher chance of developing CAD than individuals with the other XbaI/EcoRI genotypes, independently of the other risk factors considered (sex, tobacco consumption, total cholesterol, hypertension, and triglycerides). We conclude that the X-X-/E+E genotype may be in linkage disequilibrium with an unknown variation in the apo B gene or with a variation in another gene that affects the risk of CAD
Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Apolipoproteínas B , Doença das Coronárias , Desoxirribonuclease EcoRI , Desoxirribonucleases de Sítio Específico do Tipo II , Polimorfismo Genético , Alelos , Estudos de Casos e Controles , Estudos Transversais , Marcadores Genéticos , Genótipo , Análise Multivariada , Polimorfismo de Fragmento de Restrição , Estudos Prospectivos , Fatores de RiscoRESUMO
The butyrylcholinesterase (BChE; EC 3.1.1.8) activities of two electrophoretic bands of the CHE2 C5+ phenotype--C5 and C(OF) (other forms)--were quantified by densitometry in 100 individuals. The activity data suggested that, in addition to determining C5, the CHE2*C5+ allele also increases the level of other BChE forms. Since the relative activity of C5 showed the highest correlation coefficient with weight when compared with the other BChE activity variables (total, absolute C5, and absolute C(OF)), its median activity level was used for the classification of CHE2 C5+ phenotypes (faint and intense). Mean body mass index (BMI) was compared among the CHE2 locus phenotypes-controlled by sex, age, and ethnic group. It was shown that the intense CHE2 C5+ phenotype presents a significantly lower (p < 0.001) mean BMI (23.2) than the other phenotypes (faint CHE2 C5+ = 25.2; CHE2 C5- = 25.4). It seems that the relative COF activity is positively associated with fat storage, since CHE2 C5- and faint CHE2 C5+ phenotypes showed higher mean BMI than the intense CHE2 C5+ phenotype. Our hypothesis is that the presence of C5 in a relatively high proportion leads to less fat storage.
Assuntos
Índice de Massa Corporal , Butirilcolinesterase/genética , Colinesterases/genética , Variação Genética/genética , Obesidade/genética , Magreza/genética , Adulto , Fatores Etários , Brasil/epidemiologia , Cromossomos Humanos Par 3/genética , Etnicidade/genética , Feminino , Genótipo , Humanos , Masculino , Obesidade/epidemiologia , Fenótipo , Análise de Regressão , Caracteres Sexuais , Magreza/epidemiologiaRESUMO
The frequency of the butyrylcholinesterase K mutation was calculated on the basis of data obtained by polymerase chain reaction primer-introduced restriction analysis (PCR-PIRA). The population sample was composed of 177 Brazilians: 95 whites of predominantly European ancestry and 82 admixed individuals (European and African origin). The frequencies--18.4 +/- 2.8% for whites and 17.1 +/- 2.9% for admixed--did not differ from those previously obtained in North America, Scotland, Japan, and Denmark. The occurrence of the K mutation in Europeans, East Asians, and Africans suggests a relatively old origin for this mutation, and the similar frequencies found in these populations may suggest the operation of selective forces.
Assuntos
População Negra/genética , Butirilcolinesterase/genética , Frequência do Gene , Mutação/genética , População Branca/genética , Brasil , HumanosRESUMO
Farmers exposed to pesticides and classified as mildly poisoned and controls on the basis of erythrocyte acetylcholinesterase (AChE) activity were examined for butyrylcholinesterase (BChE) genetic variability. The mildly poisoned group showed a significantly higher frequency of non-usual phenotypes (13.1%) than the control group (1.7%). These phenotypes showed a relative risk (RR) of 8.8 of erythrocyte AChE inhibition when compared to the usual phenotype. Among the subjects with the usual phenotype, the CHF2 C5- phenotype was more frequent in the mildly poisoned group (94.3%) than in the control group (81.0%), leading to an RR of 3.9 when compared to the CHE2 C5+ phenotype. When the total sample was classified into two groups (usual CHE2 C5+ and other phenotypes), the usual CHE2 C5+ phenotype was found to be responsible for a preventive fraction of about 14% of the cases of mild poisoning. The present data suggest that BChE genetic variability offers differential protection against erythrocyte AChE inhibition.
Assuntos
Doenças dos Trabalhadores Agrícolas/genética , Butirilcolinesterase/genética , Inibidores da Colinesterase/farmacologia , Eritrócitos/enzimologia , Variação Genética , Praguicidas/farmacologia , Acetilcolinesterase/sangue , Adolescente , Adulto , Idoso , Doenças dos Trabalhadores Agrícolas/induzido quimicamente , Doenças dos Trabalhadores Agrícolas/enzimologia , Colinesterases/genética , Mapeamento Cromossômico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Medição de RiscoRESUMO
The genetic variability of butyrylcholinesterase, determined by the BCHE and CHE2 loci, was examined in nine Brazilian Indian groups. In addition, a search for the presence of the BCHE*F allele was also performed in eight other Brazilian Indian samples and in five admixed (black-Indian-white) rural Amazonian communities previously studied for the CHE2 locus and the BCHE*A allele. In the Indian populations the frequency of the BCHE*F allele varied from 0 to 7.1% +/- 3.4 and the frequency of the CHE2 C5+ phenotype ranged from 1.4% +/- 1.4 to 45.9% +/- 3.8. This study seems to be the first to report the presence of the BCHE*F allele in native Americans. The BCHE*A allele appeared in one Indian group (1.4% +/- 1.0), and we suggest that its existence in this tribe and in other native Americans can be explained by gene flow from white populations. Gene flow may also be the reason for the occurrence of the BCHE*F allele in Brazilian Indians, whereas the CHE2*C5+ allele may have been present in the paleo-Indians. The distributions of both the BCHE*F allele and the CHE2 C5+ phenotype in Brazilian Indians seem to be the result of the action of random genetic drift.
Assuntos
Butirilcolinesterase/genética , Indígenas Sul-Americanos/genética , Polimorfismo Genético/genética , Alelos , Brasil , Demografia , Frequência do Gene , Humanos , FenótipoRESUMO
An improved method for the identification of butyrylcholinesterase phenotypes is proposed. It is based on modifications of a method that uses alpha-naphthyl acetate as substrate and DL-propranolol and Ro2-0683 as inhibitors. The proposed modifications make the method more rapid and increase the accuracy of the determinations of the phenotypes tested (BCHE U, BCHE UF, BCHE UA, BCHE AK, BCHE AF, and BCHE A). These modifications make the method even more adequate for population studies and clinical routine.