Chautard-Freire-Maia EA

General

Full name : Chautard-Freire-Maia Eleidi A

First name : Eleidi A

Mail : Department of Genetics and BiochemiStry.,Federal University of Parana, Caixa PO Box 19071, 81531-990 Curitiba-Parana

Zip Code :

City :

Country : Brazil

Email : elidi@garoupa.bio.ufr.br

Phone : 55-41-244-6344

Fax : 55-41-266-2042

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References (38)

Title : Association between RAPH1 Gene Haplotypes and CHE2 Locus Phenotypes - De Andrade_2016_Ann.Hum.Genet_80_203
Author(s) : de Andrade FA , Batistela MS , Amaral Sda C , Dos Santos W , Mikami LR , Chautard-Freire-Maia EA , Furtado-Alle L , de Souza RLR
Ref : Ann Hum Genet , 80 :203 , 2016
Abstract : The human butyrylcholinesterase (BChE) is a serum esterase that has been associated with body mass index (BMI) and obesity. Its activity is conditioned by alleles of BCHE gene and the CHE2 locus that codifies an unknown BChE-binding protein (C5 complex). The hypothesis that the CHE2 locus is the RAPH1 gene, which encodes lamellipodin (Lpd), was raised in a study that observed Lpd peptides released from denatured BChE tetramers. The aim of this study was to test this hypothesis by evaluating SNPs of RAPH1 gene (rs2246118:C > T, rs3814365:A > G and rs2465520:C > T) in 34 CHE2 C5+ and 92 CHE2 C5- individuals, corresponding to the presence and absence of C5 complex. The results showed association of two haplotypes (CAC and TGC) with CHE2 C5+ phenotype. RAPH1 haplotypes was also associated with intense (TGC) and faint (CAC) CHE2 C5+ phenotypes. BChE activity was higher in intense CHE2 C5+ than faint CHE2 C5+ phenotype. Our results corroborate the hypothesis that the RAPH1 gene is the CHE2 locus and suggest that the variable expressivity of the CHE2 C5+ phenotypes is, at least in part, due to its genetic heterogeneity, which is leading to increased BChE activity only in individuals with intense CHE2 C5+ phenotype.
ESTHER : De Andrade_2016_Ann.Hum.Genet_80_203
PubMedSearch : De Andrade_2016_Ann.Hum.Genet_80_203
PubMedID: 27346732

Title : Gestational diabetes mellitus (GDM) decreases butyrylcholinesterase (BChE) activity and changes its relationship with lipids - Guimaraes_2014_Genet.Mol.Biol_37_1
Author(s) : Guimaraes LO , de Andrade FA , Bono GF , Setoguchi TE , Brandao MB , Chautard-Freire-Maia EA , Dos Santos IC , Picheth G , Faria AC , Rea RR , de Souza RLR , Furtado-Alle L
Ref : Genet Mol Biol , 37 :1 , 2014
Abstract : Many conditions interfere with butyrylcholinesterase (BChE) activity, e.g., pregnancy or presence of the BCHE gene variant -116A can decrease activity whereas obesity and types I and II diabetes mellitus can increase activity. In this study, we examined BChE activity, -116A and 1615A BCHE gene variants, and anthropometric and biochemical variables associated with diabetes in patients with gestational diabetes mellitus (GDM) and in healthy pregnant women. BChE activity was measured spectrophotometrically using propionylthiocholine as substrate and genotyping of the -116 and 1615 sites of the BCHE gene was done with a TaqMan SNP genotyping assay. Three groups were studied: 150 patients with GDM, 295 healthy pregnant women and 156 non-pregnant healthy women. Mean BChE activity was significantly lower in healthy pregnant women than in women from the general population and was further reduced in GDM patients. BChE activity was significantly reduced in carriers of -116A in GDM patients and healthy pregnant women. Although GDM patients had a significantly higher mean body mass index (BMI) and triglycerides than healthy pregnant women, they had lower mean BChE activity, suggesting that the lowering effect of GDM on BChE activity was stronger than the characteristic enhancing effect of increased BMI and triglycerides.
ESTHER : Guimaraes_2014_Genet.Mol.Biol_37_1
PubMedSearch : Guimaraes_2014_Genet.Mol.Biol_37_1
PubMedID: 24688284

Title : -116A and K BCHE gene variants associated with obesity and hypertriglyceridemia in adolescents from Southern Brazil - Chaves_2013_Chem.Biol.Interact_203_341
Author(s) : Chaves TJ , Leite N , Milano GE , de Souza RLR , Chautard-Freire-Maia EA , Furtado-Alle L
Ref : Chemico-Biological Interactions , 203 :341 , 2013
Abstract : Butyrylcholinesterase (BChE) has been associated to body mass index (BMI), weight, cholesterol and triglyceride levels. -116A (rs1126680) and K (A539T, 1615A, rs1803274) BCHE gene variants had previously been associated to BChE activity, weight and BMI variance in adults. The present study examined -116A and K variants, BChE activity, anthropometric and biochemical variables associated with obesity in adolescents (120 obese and 150 non-obese from Curitiba, Brazil). Both -116A and K variants were found with significantly lower frequencies (p<0.05) in obese adolescents when compared with non-obese adolescents and with the general population. Mean BChE activity (KU/L) was significantly higher in obese adolescents when compared with non-obese adolescents and with the general population. Analyzing only the obese adolescents, it was found that carriers of the -116A variant showed lower BChE activity and higher triglyceride levels than homozygotes for the usual allele. Indeed, obese carriers of the -116A variant had triglyceride levels considered high according to reference values for serum triglycerides in Brazilian adolescents. These results show: (1) a protective effect of -116A and K variants on juvenile obesity risk, suggesting a role for the BCHE gene on juvenile onset obesity different from that observed on adult onset obesity and (2) an association of the -116A variant with hypertriglyceridemia in obese adolescents probably because of its effect on lowering BChE activity and consequently diminishing the enzyme capability of maintaining homeostasis on lipid metabolism during the metabolic stress caused by obesity.
ESTHER : Chaves_2013_Chem.Biol.Interact_203_341
PubMedSearch : Chaves_2013_Chem.Biol.Interact_203_341
PubMedID: 23000450

Title : Investigation of Association between Susceptibility to Leprosy and SNPs inside and near the BCHE Gene of Butyrylcholinesterase - Gomes_2012_J.Trop.Med_2012_184819
Author(s) : Gomes HJ , de Souza RLR , Prevedello FC , Mira MT , Chautard-Freire-Maia EA
Ref : J Trop Med , 2012 :184819 , 2012
Abstract : Leprosy is a chronic disease caused by Mycobacterium leprae and affects the skin and the peripheral nervous system. Butyrylcholinesterase is coded by the BCHE gene, and the atypical allele (70G; rs1799807) has been investigated as a leprosy risk factor, with conflicting results. The present study estimated the frequencies of variants of rs1799807 and of five additional SNPs at the BCHE gene or near it: rs1126680, rs1803274, rs2863381, rs4440084, and rs4387996. A total of 167 patients and 150 healthy controls were genotyped by TaqMan PCR. Significantly higher allelic (70G) and genotypic (70DG) frequencies in rs1799807 were found in the patient group, with odds ratio (OR) of 6.33 (1.40 to 28.53) for the heterozygote. This finding was replicated in a comparison of the cases against a control group of 361 blood donors. The present data suggest that the atypical BChE variant may predispose to leprosy per se.
ESTHER : Gomes_2012_J.Trop.Med_2012_184819
PubMedSearch : Gomes_2012_J.Trop.Med_2012_184819
PubMedID: 22523498

Title : Obesity and variants of the GHRL (ghrelin) and BCHE (butyrylcholinesterase) genes - Dantas_2011_Genet.Mol.Biol_34_205
Author(s) : Dantas VG , Furtado-Alle L , de Souza RLR , Chautard-Freire-Maia EA
Ref : Genet Mol Biol , 34 :205 , 2011
Abstract : Ghrelin coded by the GHRL gene is related to weight-gain, its deactivation possibly depending on its hydrolyzation by butyrylcholinesterase (BChE) encoded by the BCHE gene, an enzyme already associated with the body mass index (BMI). The aim was to search for relationships between SNPs of the GHRL and BCHE genes with BChE activity, BMI and obesity in 144 obese and 153 nonobese Euro-Brazilian male blood donors. In the obese individuals, a significant association with higher BChE activity, in the 72LM+72MM; -116GG genotype class (GHRL and BCHE genes, respectively) was noted. No significant differences were found otherwise, through comparisons between obese and control individuals, of genotype and allele frequencies in SNPs of the GHRL gene (Arg51Gln and Leu72Met), or mean BMI between 72LL and 72LM+72MM genotypes. Although there appears to be no direct relationship between the examined GHRL SNPs and BMI, the association of the 72M SNP with higher BChE activity in obese subjects probably points to a regulatory mechanism, thereby implying the influence of the GHRL gene on BChE expression, and a consequential metabolic role in the complex process of fat utilization.
ESTHER : Dantas_2011_Genet.Mol.Biol_34_205
PubMedSearch : Dantas_2011_Genet.Mol.Biol_34_205
PubMedID: 21734817

Title : Amplification and deletion of the ACHE and BCHE cholinesterase genes in sporadic breast cancer - Bernardi_2010_Cancer.Genet.Cytogenet_197_158
Author(s) : Bernardi CC , Ribeiro Ede S , Cavalli IJ , Chautard-Freire-Maia EA , de Souza RLR
Ref : Cancer Genet Cytogenet , 197 :158 , 2010
Abstract : Increasing evidence supports the involvement of acetylcholinesterase and butyrylcholinesterase in cell proliferation control and differentiation, reinforcing the hypothesis that these enzymes might have an influence in tumorigenesis. It has already been shown that the cholinesterase genes are structurally altered or aberrantly expressed in a variety of tumor types. In this study, amplifications and deletions in the ACHE and BCHE genes were investigated in sporadic breast tumors using real-time polymerase chain reaction and the relative quantification method. The majority of the tumor tissues showed a notable number of both deletions and amplifications: 65.7% and 22.9%, respectively, in BCHE and 45.7% and 31.4%, respectively, in ACHE. Deletion of the ACHE gene was significantly correlated with amplification of the protooncogene ERBB2. Tumor size was significantly higher when the ACHE gene was amplified, and the total number of alterations (amplifications plus deletions) of the BCHE gene was positively correlated with tumor malignancy grade.
ESTHER : Bernardi_2010_Cancer.Genet.Cytogenet_197_158
PubMedSearch : Bernardi_2010_Cancer.Genet.Cytogenet_197_158
PubMedID: 20193849

Title : Molecular forms of butyrylcholinesterase and obesity - Boberg_2010_Genet.Mol.Biol_33_452
Author(s) : Boberg DR , Furtado-Alle L , de Souza RLR , Chautard-Freire-Maia EA
Ref : Genet Mol Biol , 33 :452 , 2010
Abstract : This study compared obese (N = 134) and unobese (N = 92) male blood donors, regarding the relative intensity (RI) and activity of different molecular forms (G1, G2, G4 and G1-ALB) of butyrylcholinesterase (BChE, EC 3.1.1.8) found in plasma, thereby searching for an association between these variables with obesity and SNPs of exons 1 and 4 of the BCHE gene. It was shown that obese and unobese individuals do not differ in the RI of each BChE band, even when classifying the sample into three genotypes of exons 1 and 4 of the BCHE gene (-116GG/539AA, -116GG/539AT, -116GA/539AT). Although the mean BChE activity of each band was significantly higher in obese than in unobese blood donors, the proportions of BChE bands were maintained, even under the metabolic stress associated to obesity, thereby leading to infer that this proportion is somehow regulated, and may therefore be important for BChE functions.
ESTHER : Boberg_2010_Genet.Mol.Biol_33_452
PubMedSearch : Boberg_2010_Genet.Mol.Biol_33_452
PubMedID: 21637414

Title : Two new mutations of the human BCHE gene (IVS3-14T>C and L574fsX576) - Parmo-Folloni_2008_Chem.Biol.Interact_175_135
Author(s) : Parmo-Folloni F , Nunes K , Lepienski LM , Mikami LR , de Souza RLR , Tsuneto LT , Petzl-Erler ML , Chautard-Freire-Maia EA
Ref : Chemico-Biological Interactions , 175 :135 , 2008
Abstract : The genetic variation of human butyrylcholinesterase is associated with the majority of prolonged cases of apnea in patients submitted to the muscle relaxant succinylcholine. The present study reports two new mutations of the BCHE gene in 346 Euro-Brazilians: IVS3-14T>C found in five heterozygotes (allele frequency: 0.72+/-0.32%) and L574fsX576 found in one heterozygote (allele frequency: 0.14+/-0.14%). These two variants were not found in 85 Guarani Amerindians. It is not expected that the IVS3-14T>C mutation may interfere in the splicing process and that the mutation found in exon 4 (L574fsX576) may disturb BChE tetramerization and activity.
ESTHER : Parmo-Folloni_2008_Chem.Biol.Interact_175_135
PubMedSearch : Parmo-Folloni_2008_Chem.Biol.Interact_175_135
PubMedID: 18555211

Title : Five new naturally occurring mutations of the BCHE gene and frequencies of 12 butyrylcholinesterase alleles in a Brazilian population - Mikami_2008_Pharmacogenet.Genomics_18_213
Author(s) : Mikami LR , Wieseler S , de Souza RLR , Schopfer LM , Nachon F , Lockridge O , Chautard-Freire-Maia EA
Ref : Pharmacogenet Genomics , 18 :213 , 2008
Abstract : Human butyrylcholinesterase (BChE; EC 3.1.1.8) is codified by the BCHE gene (3q26.1-q26.2) in which 65 variants have been identified. BChE is a scavenger of organophosphorus and carbamate compounds and hydrolyzes succinylcholine, mivacurium and cocaine. The present study describes 12 naturally occurring BCHE mutations including five new mutations (K12R, G15G, V294M, G333C and R470W) identified in 366 blood donors from Southern Brazil. Exons 2 and 4 of the BCHE gene were examined by PCR-SSCA and samples with unexpected electrophoretic patterns were sequenced. The respective nucleotide substitution that characterizes each of the four new nonsynonymous mutations was introduced into BCHE cDNA by site directed mutagenesis and transfected into human embryonic kidney 293T cells and/or Chinese hamster ovary cells. The catalyzed hydrolysis of butyrylthiocholine (BTC) by BChE was measured by the Ellman method. Enzyme kinetic parameters obtained after the expression of the respective recombinant BChE evaluated the effects of the four nonsynonymous mutations. Thirty-four out of 366 individuals carried a BChE mutation in exon 2. The K variant mutation, A539T in exon 4, was present in one out of three persons. Gene expression showed that only one of the newly identified mutations (G333C) altered BChE activity, leading to a decrease of about 80% in relation to the wild-type enzyme.
ESTHER : Mikami_2008_Pharmacogenet.Genomics_18_213
PubMedSearch : Mikami_2008_Pharmacogenet.Genomics_18_213
PubMedID: 18300943

Title : Association of variants of the -116 site of the butyrylcholinesterase BCHE gene to enzyme activity and body mass index - Furtado-Alle_2008_Chem.Biol.Interact_175_115
Author(s) : Furtado-Alle L , Andrade FA , Nunes K , Mikami LR , de Souza RLR , Chautard-Freire-Maia EA
Ref : Chemico-Biological Interactions , 175 :115 , 2008
Abstract : Butyrylcholinesterase (BChE) is coded by the BCHE gene that presents four exons. The non-codifying exon 1 presents two variants -116G and -116A, being -116A preferentially in cis conformation with the 539T variant (K) of exon 4 which was associated with lower BChE activity and lower body mass index (BMI) variance. This study analyzed the frequency of -116 variants and the relation of genotypes -116GG;539AA, -116GG;539AT and -116GA;539AT with BChE activity and with BMI in Euro-Brazilian blood donors. The frequency of -116A was significantly higher (18.9%) in the low BChE activity group when compared to obese (8.6%) and normal BMI (9.3%) groups. In obese and non-obese groups, the -116GA;539AT genotype showed significantly lower mean BChE activity when compared to the -116GG;539AA genotype and in obese individuals the -116GA;539AT genotype also showed lower BChE activity than the -116GG;539AT genotype. In a sample selected independently of BMI, the -116GA;539AT genotype showed significantly higher BMI variance (21.75) when compared to -116GG;539AA (12.14) and to -116GG;539AT (13.43) genotypes, indicating that the association with higher BMI variance only occurs in the presence of the -116A variant. In the obese sample, the -116GG;539AT genotype presented mean (32.1+/-0.3) and variance (2.3) of BMI significantly lower than those found in the -116GG;539AA (33.0+/-0.3 and 9.9, respectively) and -116GA;539AT (33.7+/-0.7 and 12.2, respectively) genotypes. These data show that: (1) the K (539T) variant alone is not associated with decreased BChE activity, being the 5' UTR -116A variant necessary for this decrease, probably by affecting transcription and/or translation of the BCHE gene; (2) samples with different BMI distributions present different relationships between BCHE genotypes and BMI, reinforcing the hypothesis of a role for the BCHE gene in BMI determination.
ESTHER : Furtado-Alle_2008_Chem.Biol.Interact_175_115
PubMedSearch : Furtado-Alle_2008_Chem.Biol.Interact_175_115
PubMedID: 18550040

Title : Expression of three naturally occurring genetic variants (G75R, E90D, I99M) of the BCHE gene of human butyrylcholinesterase - Mikami_2007_Pharmacogenet.Genomics_17_681
Author(s) : Mikami LR , Wieseler S , de Souza RLR , Schopfer LM , Lockridge O , Chautard-Freire-Maia EA
Ref : Pharmacogenet Genomics , 17 :681 , 2007
Abstract : The present paper examined the effects of three non synonymous BCHE mutations (G75R, E90D and /99M) on enzyme kinetic parameters obtained after the expression of the respective recombinant BChEs. The respective nucleotide substitution that characterizes each of the three variants was introduced into BCHE cDNA by site directed mutagenesis and transfected into human embryonic kidney 293 T cells and Chinese hamster ovary cells (for E90D). BChE catalysed hydrolysis of butyrylthiocoline (BTC) was measured by Ellman method. The expression results showed that: (1) the activity of the G75R enzyme represents approximately 45% of the wild-type activity, whereas that of the I99M enzyme does not differ from the wild-type; (2) the E90D enzyme presents a silent phenotype; disruption of the salt bridge between E90 and R42 may cause the enzyme to be rapidly degraded inside the cells. In homozygous form the E90D enzyme may confer increased susceptibility to succinylcholine, but may delay cognitive impairment in aged individuals. BChE genotyping may become important for estimating prognosis, and the knowledge of the genetic variants of BChE in a particular population may be useful for carrying out the genotyping assays.
ESTHER : Mikami_2007_Pharmacogenet.Genomics_17_681
PubMedSearch : Mikami_2007_Pharmacogenet.Genomics_17_681
PubMedID: 17700357

Title : Variant K of butyrylcholinesterase and risk of early-onset type 1 diabetes mellitus in Euro-Brazilians -
Author(s) : Lepienski LM , de Souza RLR , Chautard-Freire-Maia EA , Alcantara VM , Rea RR
Ref : Diabetes Obes Metab , 8 :709 , 2006
PubMedID: 17026497

Title : Variant K of butyrylcholinesterase and types 1 and 2 of diabetes mellitus -
Author(s) : Lepienski LM , Alcantara VM , de Souza RLR , Rea RR , Chautard-Freire-Maia EA
Ref : Chemico-Biological Interactions , 157-158 :374 , 2005
PubMedID: 16429499

Title : Butyrylcholinesterase activity and metabolic syndrome in obese patients - Alcantara_2005_Clin.Chem.Lab.Med_43_285
Author(s) : Alcantara VM , Oliveira LC , Rea RR , Suplicy HL , Chautard-Freire-Maia EA
Ref : Clinical Chemistry & Laboratory Medicine , 43 :285 , 2005
Abstract : Total butyrylcholinesterase activity (EC 3.1.1.8) was previously suggested as a marker for metabolic syndrome. The present study examined total butyrylcholinesterase activity and the relative and absolute activities of two butyrylcholinesterase electrophoretic bands (C(4/5) and C(OF) in 99 obese individuals (body mass index > or = 30 kg/m2) presenting the CHE2 C5- phenotype of the CHE2 gene. Anthropometric, hormonal and biochemical variables already associated with metabolic syndrome were also examined. The data from these obese individuals of the CHE2 C5- phenotype show that total butyrylcholinesterase activity and the absolute activities of the C(4/5) and C(OF) electrophoretic bands are associated with metabolic syndrome and with variables related to it. These butyrylcholinesterase activities do not behave as independent risk factors for metabolic syndrome, but can be considered as secondary markers for this syndrome in obese individuals with the CHE2 C5- phenotype.
ESTHER : Alcantara_2005_Clin.Chem.Lab.Med_43_285
PubMedSearch : Alcantara_2005_Clin.Chem.Lab.Med_43_285
PubMedID: 15843232

Title : Possible influence of BCHE locus of butyrylcholinesterase on stature and body mass index - de Souza_2005_Am.J.Phys.Anthropol_126_329
Author(s) : de Souza RLR , Fadel-Picheth C , Allebrandt KV , Furtado-Alle L , Chautard-Freire-Maia EA
Ref : Am J Phys Anthropol , 126 :329 , 2005
Abstract : Butyrylcholinesterase activity has been shown to be positively associated with weight and body mass index (BMI). The present study was carried out to search for an association between variants of the BCHE gene and weight, stature, and BMI on the basis of means and variances compared between nonusual variants and their respective usual controls. Individuals bearing the atypical mutation (N = 52) did not differ from their usual phenotype controls (N = 104) in these parameters. The BCHE*U/BCHE*K individuals (N = 222) presented a significantly higher BMI variance than their BCHE*U/BCHE*U controls (N = 222, F = 1.40, P = 0.012). This higher BMI variance does not seem to be an isolated effect of the K mutation, but appears to be the result of an interaction between the K allele and the usual allele, since no such difference in variance was detected between BCHE*K/BCHE*K individuals (N = 23) and their BCHE*U/BCHE*U (N = 23) controls. These data may suggest a relation between variability in the BCHE locus itself and BMI. Individuals with the BCHE UF phenotype (N = 45) showed a significantly higher mean stature (about 3 cm more; P = 0.02) than their controls with the usual phenotype (N = 135). A role in cell proliferation has been proposed for BCHE, and since growth depends on the number of mitoses, it is not unexpected that variants of this enzyme may influence body stature in different ways. This study reports the first data on the relation of BCHE alleles to anthropometric characters.
ESTHER : de Souza_2005_Am.J.Phys.Anthropol_126_329
PubMedSearch : de Souza_2005_Am.J.Phys.Anthropol_126_329
PubMedID: 15386241

Title : Four new mutations in the BCHE gene of human butyrylcholinesterase in a Brazilian blood donor sample - de Souza_2005_Mol.Genet.Metab_84_349
Author(s) : de Souza RLR , Mikami LR , Maegawa RO , Chautard-Freire-Maia EA
Ref : Mol Genet Metab , 84 :349 , 2005
Abstract : The genetic variation of human butyrylcholinesterase has been associated with height, body mass index, Alzheimer's disease, and response to xenobiotic agents. The present study reports four new mutations, found in the exon 2 of the BCHE gene, in a sample from 3001 Brazilian blood donors. The three nonsynonymous mutations and one synonymous mutation detected are: 223G-->C, G75R; 270A-->C, E90 D; 297T-->G, I99 M; 486T-->C, A162 A, respectively. All these variants are rare: 0.093+/-0.093% for the missense mutations and 0.137+/-0.137% for the synonymous mutation. A table with the 58 non-usual variants of butyrylcholinesterase is also presented.
ESTHER : de Souza_2005_Mol.Genet.Metab_84_349
PubMedSearch : de Souza_2005_Mol.Genet.Metab_84_349
PubMedID: 15781196

Title : Studies on a heterologous complex formed by human butyrylcholinesterase - de Souza_2003_Biochem.Genet_41_141
Author(s) : de Souza RLR , Furtado-Alle L , Diniz AC , Silva AC , Kaiss J , Petzl-Erler ML , Chautard-Freire-Maia EA
Ref : Biochemical Genetics , 41 :141 , 2003
Abstract : 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.
ESTHER : de Souza_2003_Biochem.Genet_41_141
PubMedSearch : de Souza_2003_Biochem.Genet_41_141
PubMedID: 12834044

Title : Butyrylcholinesterase and obesity in individuals with the CHE2 C5+ and CHE2 C5- phenotypes - Alcantara_2003_Int.J.Obes.Relat.Metab.Disord_27_1557
Author(s) : Alcantara VM , Oliveira LC , Rea RR , Suplicy HL , Chautard-Freire-Maia EA
Ref : Int J Obes Relat Metab Disord , 27 :1557 , 2003
Abstract : 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.
ESTHER : Alcantara_2003_Int.J.Obes.Relat.Metab.Disord_27_1557
PubMedSearch : Alcantara_2003_Int.J.Obes.Relat.Metab.Disord_27_1557
PubMedID: 14634689

Title : The variable expression of the C4\/5 complex of human butyrylcholinesterase and body mass index - Alcantara_2003_Hum.Biol_75_47
Author(s) : Alcantara VM , Rodrigues LC , Oliveira LC , Chautard-Freire-Maia EA
Ref : Hum Biol , 75 :47 , 2003
Abstract : The activity of a supposedly heteromeric complex (C4/5) of butyrylcholinesterase (BChE; EC 3.1.1.8) was analyzed in relation to body mass index (BMI). The activities of the C4/5 and C(OF) (other molecular forms) bands in CHE2 C5- (n = 447) and CHE2 C5+ (n = 88) individuals were quantified by densitometry. Since the absolute activity of C4/5 (AC4/5) showed the highest correlation coefficient with weight in the CHE2 C5- phenotype when compared to the other BChE activity variables (total, relative C4/5, and absolute C(OF)), this variable was used for the classification of 51 CHE2 C5-individuals into three groups (low, average, and high), paired by sex, age, and ethnic origin. The low AC4/5 group was found to present a significantly (p < 0.0001) lower mean BMI (22.9) than the other groups (average = 25.2, and high = 26.3). In the CHE2 C5+ individuals no statistically significant standardized regression coefficient was verified between BMI (dependent variable) and the C4/5, band activities. These data show that the behavior of the C4/5 band in relation to BMI differs between the CHE2 C5- and CHE2 C5+ phenotypes. While the C5 band of the CHE2 C5+ individuals is negatively associated with fat storage in the adipose cells, the present data show that the C4/5 band is positively associated with this storage in the CHE2 C5- phenotype.
ESTHER : Alcantara_2003_Hum.Biol_75_47
PubMedSearch : Alcantara_2003_Hum.Biol_75_47
PubMedID: 12713145

Title : Variability of the paraoxonase gene (PON1) in Euro- and Afro-Brazilians - Allebrandt_2002_Toxicol.Appl.Pharmacol_180_151
Author(s) : Allebrandt KV , de Souza RLR , Chautard-Freire-Maia EA
Ref : Toxicol Appl Pharmacol , 180 :151 , 2002
Abstract : The human high-density lipoprotein-associated paraoxonase (EC 3.1.1.2; PON1) plays a role in the hydrolysis of organophosphorus compounds and against the oxidative damage of low-density lipoprotein. In the present study, variants of PON1 (55 and 192) were investigated by PCR-RFLP and PCR-SSCA in Euro- (N = 101) and Afro-Brazilians (N = 70). The PON1*55 and PON1*192 allele frequencies were significantly different in these ethnic groups (p < 0.05 and p < 0.001, respectively). The genotype frequencies for PON1*55 (LL, LM, and MM) in Euro- and Afro-Brazilians were 33, 56, and 11% and 47, 49, and 4%, respectively. The genotype frequencies for PON1*192 were significantly different in Euro- and Afro-Brazilians (QQ, QR, RR: 48, 42, and 10% and 21, 52, and 27%, respectively; p < 0.001). The haplotype frequency distributions were also significantly different in Euro- (LQ = 30.20%; LR = 30.69%; and MQ = 39.11%) and Afro-Brazilians (LQ = 24.97%; LR = 46.46%; MQ = 22.18%; and MR = 6.39%; p < 0.001). Linkage disequilibrium (D) in relation to the maximum expected value was higher in Euro- (100%) than in Afro-Brazilians (58%). We suggest that the high linkage disequilibrium in Caucasians and Asians characterized by the absence or very low frequency of the MR haplotype is mainly due to genetic drift and possibly also to natural selection favoring the PON1*192Q allele or a variant in linkage disequilibrium with it. This seems to be the first study on the PON1 variability at the DNA level in South American samples and one of the few studies on individuals of mixed African origin.
ESTHER : Allebrandt_2002_Toxicol.Appl.Pharmacol_180_151
PubMedSearch : Allebrandt_2002_Toxicol.Appl.Pharmacol_180_151
PubMedID: 12009854

Title : Butyrylcholinesterase activity and risk factors for coronary artery disease - Alcantara_2002_Scand.J.Clin.Lab.Invest_62_399
Author(s) : Alcantara VM , Chautard-Freire-Maia EA , Scartezini M , Cerci MS , Braun-Prado K , Picheth G
Ref : Scand J Clin Lab Invest , 62 :399 , 2002
Abstract : The aim of this study was to verify which risk factors for coronary artery disease (CAD) are independently correlated with butyrylcholinesterase (BChE) activity. We studied 88 White individuals (43 males) aged 47.3+/-15.7 years (mean+/-SD; range: 14.0-80.0 years) including 38 with hyperlipidemia, 30 with hypertension and 5 with diabetes mellitus (DM). Simple correlation analysis showed that BChE activity was positively correlated with age, sex, body mass index, hypertension and DM, as well as with triglycerides (TGs), total cholesterol, low-density lipoprotein cholesterol and apolipoprotein B (Apo B). However, after a step-wise multiple regression analysis, the only risk factors for CAD that showed independent correlations with BChE activity were, in descending order of importance, Apo B, TGs and DM. Our findings seem to reinforce suggested associations of BChE activity with lipoprotein synthesis and with hypertension, as well as supporting previous data on the relation of BChE activity with disturbances found in diabetes mellitus.
ESTHER : Alcantara_2002_Scand.J.Clin.Lab.Invest_62_399
PubMedSearch : Alcantara_2002_Scand.J.Clin.Lab.Invest_62_399
PubMedID: 12387587

Title : Association of the CHE2 locus with body mass index and butyrylcholinesterase activity - Alcantara_2001_Hum.Biol_73_587
Author(s) : Alcantara VM , Rodrigues LC , Oliveira LC , Chautard-Freire-Maia EA
Ref : Hum Biol , 73 :587 , 2001
Abstract : 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.
ESTHER : Alcantara_2001_Hum.Biol_73_587
PubMedSearch : Alcantara_2001_Hum.Biol_73_587
PubMedID: 11512685

Title : Frequencies of the butyrylcholinesterase K mutation in Brazilian populations of European and African origin - Souza_1998_Hum.Biol_70_965
Author(s) : de Souza RLR , Castro RM , Pereira L , Freund AA , Culpi L , Chautard-Freire-Maia EA
Ref : Hum Biol , 70 :965 , 1998
Abstract : 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
ESTHER : Souza_1998_Hum.Biol_70_965
PubMedSearch : Souza_1998_Hum.Biol_70_965
PubMedID: 9780523

Title : Studies on a Molecular Form (C4\/5) of Human Butyrylcholinesterase (BChE) -
Author(s) : de Souza RLR , Diniz AC , Silva AC , Kaiss J , Chautard-Freire-Maia EA
Ref : In: Structure and Function of Cholinesterases and Related Proteins - Proceedings of Sixth International Meeting on Cholinesterases , (Doctor, B.P., Taylor, P., Quinn, D.M., Rotundo, R.L., Gentry, M.K. Eds) Plenum Publishing Corp. :598 , 1998
PubMedID:

Title : Frequency of the F2 Mutation of Human Butyrylcholinesterase in a Random Population Sample from Southern Brazil -
Author(s) : de Souza RLR , Maegawa GH , Furtado L , Akel C , Castro RM , Chautard-Freire-Maia EA
Ref : In: Structure and Function of Cholinesterases and Related Proteins - Proceedings of Sixth International Meeting on Cholinesterases , (Doctor, B.P., Taylor, P., Quinn, D.M., Rotundo, R.L., Gentry, M.K. Eds) Plenum Publishing Corp. :600 , 1998
PubMedID:

Title : Frequencies of the Butyrylcholinesterase K Mutation in Southern Brazilian Population Samples of European and African Origin -
Author(s) : de Souza RLR , Castro RM , Pereira L , Freund AA , Culpi L , Chautard-Freire-Maia EA
Ref : In: Structure and Function of Cholinesterases and Related Proteins - Proceedings of Sixth International Meeting on Cholinesterases , (Doctor, B.P., Taylor, P., Quinn, D.M., Rotundo, R.L., Gentry, M.K. Eds) Plenum Publishing Corp. :601 , 1998
PubMedID:

Title : The Relation of Nutrition Index (NI) with the C4\/5 Molecular Form of Butyrylcholinesterase (BChE) in Human Adults -
Author(s) : Alcantara VM , Rodrigues LC , Oliveira LC , Chautard-Freire-Maia EA
Ref : In: Structure and Function of Cholinesterases and Related Proteins - Proceedings of Sixth International Meeting on Cholinesterases , (Doctor, B.P., Taylor, P., Quinn, D.M., Rotundo, R.L., Gentry, M.K. Eds) Plenum Publishing Corp. :603 , 1998
PubMedID:

Title : Butyrylcholinesterase variants (BCHE and CHE2 Loci) associated with erythrocyte acetylcholinesterase inhibition in farmers exposed to pesticides - Fontoura-da-Silva_1996_Hum.Hered_46_142
Author(s) : Fontoura-da-Silva SE , Chautard-Freire-Maia EA
Ref : Hum Hered , 46 :142 , 1996
Abstract : 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.
ESTHER : Fontoura-da-Silva_1996_Hum.Hered_46_142
PubMedSearch : Fontoura-da-Silva_1996_Hum.Hered_46_142
PubMedID: 8860008

Title : Butyrylcholinesterase polymorphisms (BCHE and CHE2 loci) in Brazilian Indian and admixed populations - Alcantara_1995_Hum.Biol_67_717
Author(s) : Alcantara VM , De Lourenco MA , Salzano FM , Petzl-Erler ML , Coimbra CE, Jr. , Santos RV , Chautard-Freire-Maia EA
Ref : Hum Biol , 67 :717 , 1995
Abstract : 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.
ESTHER : Alcantara_1995_Hum.Biol_67_717
PubMedSearch : Alcantara_1995_Hum.Biol_67_717
PubMedID: 8543286

Title : An improved method for butyrylcholinesterase phenotyping [published erratum appears in Biochem Genet 1994 Oct\;32(9-10):379] - Picheth_1994_Biochem.Genet_32_83
Author(s) : Picheth G , Fadel-Picheth C , Primo-Parmo SL , Chautard-Freire-Maia EA , Vieira MM
Ref : Biochemical Genetics , 32 :83 , 1994
Abstract : 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.
ESTHER : Picheth_1994_Biochem.Genet_32_83
PubMedSearch : Picheth_1994_Biochem.Genet_32_83
PubMedID: 7980387

Title : The C5 isozyme of serum cholinesterase and adult weight - Chautard-Freire-Maia_1991_Hum.Hered_41_330
Author(s) : Chautard-Freire-Maia EA , Primo-Parmo SL , Picheth G , Lourenco MA , Vieira MM
Ref : Hum Hered , 41 :330 , 1991
Abstract : The relationship between the CHE2 locus of serum cholinesterase (BChE) and adult human weight was studied in a sample of 225 CHE2 C5+ individuals and 225 CHE2 C5- controls matched for sex, height, age and race. With respect to the intensity of the C5 band staining (scored 1-6), 113 individuals had faint C5 bands (scores 1-3) and 112 intense C5 bands (scores 4-6). The individuals with intense CHE2 C5+ phenotype showed a significantly lower mean adult weight (64.66 +/- 0.73 kg) when compared to their controls (70.59 +/- 0.97 kg) and a significant reduction in weight variance (59.81 and 105.18, respectively). Individuals with faint C5 bands, although showing a negative correlation between weight and C5 band intensity, did not differ from their controls in mean weight.
ESTHER : Chautard-Freire-Maia_1991_Hum.Hered_41_330
PubMedSearch : Chautard-Freire-Maia_1991_Hum.Hered_41_330
PubMedID: 1778609

Title : CHE1 UF serum cholinesterase phenotype in whites and non-whites from southern Brazil as determined by a new method - Alcantara_1991_Hum.Hered_41_103
Author(s) : Alcantara VM , Chautard-Freire-Maia EA , Culpi L
Ref : Hum Hered , 41 :103 , 1991
Abstract : A sample of 251 Whites and 818 Non-Whites, from Curitiba (southern Brazil), was typed with a new method with the aim of estimating the frequency of the CHE1*F allele. The frequency of this allele did not differ between Whites (0.60 +/- 0.34%) and Non-Whites (0.49 +/- 0.17%), being estimated as 0.51 +/- 0.15% for the whole sample. The use of the inhibitors DL-propranolol and RO2-0683 with alpha-naphthylacetate as substrate (at 37 degrees C) was efficient for discriminating between the CHE1 U and CHE1 UF phenotypes.
ESTHER : Alcantara_1991_Hum.Hered_41_103
PubMedSearch : Alcantara_1991_Hum.Hered_41_103
PubMedID: 1855781

Title : Frequency of the CHE1*K allele of serum cholinesterase in a sample from southern Brazil - Alcantara_1990_Hum.Hered_40_386
Author(s) : Alcantara VM , Chautard-Freire-Maia EA , Picheth G , Vieira MM
Ref : Hum Hered , 40 :386 , 1990
Abstract : The frequency of the CHE1*K allele was estimated as 2.04 +/- 2.02% in a population sample from Southern Brazil. Previously reported estimates refer to the British population and are significantly higher than the present one. Our hypothesis is that the British frequencies may represent overestimates due to ascertainment conditions.
ESTHER : Alcantara_1990_Hum.Hered_40_386
PubMedSearch : Alcantara_1990_Hum.Hered_40_386
PubMedID: 2083951

Title : Frequencies of atypical serum cholinesterase among Caucasians and Negroes from southern Brazil - Chautard-Freire-Maia_1984_Hum.Hered_34_388
Author(s) : Chautard-Freire-Maia EA , Primo-Parmo SL , Canever de Lourenco MA , Culpi L
Ref : Hum Hered , 34 :388 , 1984
Abstract : Frequencies of the CHE1*A allele were estimated on the basis of a sample of 999 Caucasians (1.5%) and 1,015 Negroids (0.84%) from Curitiba, Brazil. The frequency found in the Negroid subsample allows an estimate of 50 +/- 15% of Caucasoid admixture and an average gene flow in the white-black direction of the order of 5.6% per generation.
ESTHER : Chautard-Freire-Maia_1984_Hum.Hered_34_388
PubMedSearch : Chautard-Freire-Maia_1984_Hum.Hered_34_388
PubMedID: 6510934

Title : Frequencies of atypical serum cholinesterase in a mixed population of northeastern Brazil - Chautard-Freire-Maia_1984_Hum.Hered_34_364
Author(s) : Chautard-Freire-Maia EA , Carvalho RD , da Silva MC , Souza MG , Azevedo ES
Ref : Hum Hered , 34 :364 , 1984
Abstract : Frequencies of the CHE1*A allele were estimated in 84 Whites and 772 Negroids from a random sample of Salvador, Bahia. The overall frequency of this gene in Negroids was estimated as 0.842 +/- 0.233%. This indicates that this sample presents around 50 +/- 17% of White admixture and that the estimate of the risk of developing prolonged apnoea in individuals submitted to suxamethonium is around 0.035%, that is about 1 out of 2,900.
ESTHER : Chautard-Freire-Maia_1984_Hum.Hered_34_364
PubMedSearch : Chautard-Freire-Maia_1984_Hum.Hered_34_364
PubMedID: 6510933

Title : Absence of linkage between the serum cholinesterase (CHE1) and rhesus (RH) loci -
Author(s) : Primo-Parmo SL , Chautard-Freire-Maia EA
Ref : Hum Genet , 60 :284 , 1982
PubMedID: 6809594

Title : Probable assignment of the serum cholinesterase (E1) and transferrin (Tf) loci to chromosome 1 in man - Chautard-Freire-Maia_1977_Hum.Hered_27_134
Author(s) : Chautard-Freire-Maia EA
Ref : Hum Hered , 27 :134 , 1977
Abstract : Suggestions of linkage in males between the E1 and Rh loci (Z = + 1.849; THETA = 0.20) and between the Tf and Rh loci (Z = + 0.595; THETA = 0.35) are presented. The assignment of the E1 and Tf loci to chromosome 1 and the order Tf:E1:PGD:Rh:PGM1 are cautiously proposed.
ESTHER : Chautard-Freire-Maia_1977_Hum.Hered_27_134
PubMedSearch : Chautard-Freire-Maia_1977_Hum.Hered_27_134
PubMedID: 405310

Title : Linkage relationships between 22 autosomal markers -
Author(s) : Chautard-Freire-Maia EA
Ref : Annals of Human Genetics , 38 :191 , 1974
PubMedID: 4467782