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1.
Chinese Journal of Biotechnology ; (12): 2794-2802, 2021.
Article in Chinese | WPRIM | ID: wpr-887842

ABSTRACT

Estrogen receptor (esr) mediates the effects of estrogen on the expression of related genes, thereby regulating the growth and reproduction of mammals. To investigate the effect of retrotransposon insertion polymorphism (RIP) of the porcine esr gene on porcine growth performance, retrotransposon insertion polymorphism of the esr gene were predicted by comparative genomics and bioinformatics, and PCR was used to verify the insertion polymorphisms in different porcine breeds. Finally, the correlation analysis between the genotypes and performance of Large White pigs was conducted. The results showed that four retrotransposon polymorphic sites were identified in the esr1 and esr2 genes, which are esr1-SINE- RIP1 located in intron 2 of the esr1 gene, esr1-LINE-RIP2 and RIP3-esr1- SINE located in intron 5 of the gene, and esr2-LINE-RIP located in intron 1 of the esr2 gene, respectively. Among them, insertion of a 287 bp of SINE into intron 2 of the esr1 gene significantly affected (P<0.05) the live back fat thickness and 100 kg body weight back fat thickness of Large White pigs. Moreover, the live back fat thickness and back fat thickness at 100 kg body weight of homozygous with insertion (SINE+/+) was significantly greater than that of heterozygous with insertion (SINE+/-) and homozygous without insertion (SINE-/-). Therefore, esr1-SINE-RIP1 could be used as a molecular marker to assist the selection of deposition traits in Large White pigs.


Subject(s)
Animals , Genotype , Introns/genetics , Phenotype , Polymorphism, Genetic/genetics , Retroelements/genetics , Swine/genetics
2.
Ciencia Tecnología y Salud ; 8(2): 220-231, 2021. il 27 c
Article in Spanish | LILACS-Express | LILACS, LIGCSA, DIGIUSAC | ID: biblio-1353228

ABSTRACT

El uso de inhibidores de calcineurina, en particular de tacrolimus como terapia inmunosupresora se ha generalizado a nivel mundial, permitiendo mejorar la tasa de sobrevida del injerto y la calidad de vida del paciente trasplantado. Con el acceso a los estudios de farmacogenética, los grupos de trasplante a nivel mundial se han visto motivados a realizar estudios genéticos que permitan interpretar la influencia de polimorfismos de genes como mTOR, PPP3CA, FK BP1A, FKBP2, y FOXP3, sin embargo, los más estudiados en la población trasplantada para optimizar la dosis de tacrolimus y ciclosporina son los polimorfismos del citocromo p450, CYP3A4 y CYP3A5.El objetivo de la presente revisión narrativa es examinar publicaciones recientes que estudien la relación entre el polimorfismo de CYP3A4/5 y el metabolismo de tacrolimus en pacientes trasplantados renales.Se revisó literatura reciente extraída de los sitios NCBI PubMed y PharmGKB.org en la que se hubiera investigado la influencia de los polimorfismos de CYP3A4/5 en el metabolismo de tacrolimus en trasplantados renales. Se identificó variaciones genéticas de CYP3A4/5 en pacientes trasplantados tratados con tacrolimus que permitirán a los médicos trasplantólogos dosificar de manera precisa el inmunosupresor. El uso de análisis farmacogenéticos permite determinar las variables genéticas del CYP3A4/5, y por lo tanto la toma de decisiones personalizadas en la dosis de inicio y de mantenimiento del inmunosupresor tacrolimus para alcanzar los niveles óptimos y con ello disminuir el riesgo de rechazo, de infecciones asociadas a inmunosupresión, y de toxicidad por el medicamento.


The use of the calcineurin inhibitor tacrolimus as immunosuppressive therapy, has become widespread world-wide, improving the graft's survival rate and the quality of life of the transplanted patient. With access to pharmacogenetic studies, transplant groups worldwide have been motivated to conduct genetic studies to inter-pret the influence of polymorphisms of genes such asmTOR, PPP3CA, FK BP1A, FKBP2, and FOXP3, however the most studied in the transplanted population to optimize the dose of tacrolimus and cyclosporine are those of cytochrome p450,CYP3A4 and CYP3A5. The objective of this narrative review is to examine recent publications studying the relationship betweenCYP3A4/5polymorphism, and tacrolimus metabolism in renal transplant patients. Literature extracted from the NCBI PubMed site and PharmGKB.org, from the past five years, which investigated the influence ofCYP3A4/5polymorphism on tacrolimus metabolism in renal transplants had been reviewed. Genetic variations ofCYP3A4/5 were identified in transplant patients treated with tacrolimus that will allow transplant physicians to dose the immunosuppressant accurately. The use of pharmacogenetic analyses makes it possible to determine the genetic polymorphisms ofCYP3A4/5, and therefore the decision-making cus-tomized at the starting and maintenance dose of the tacrolimus immunosuppressant to achieve optimal levels and thereby reduce the risk of rejection, immunosuppression-associated infections, and drug toxicity.


Subject(s)
Humans , Pharmacogenetics , Polymorphism, Genetic/genetics , Kidney Transplantation , Tacrolimus , Cytochrome P-450 CYP3A/drug effects , Immunosuppression/adverse effects , Cytochrome P-450 Enzyme System/genetics , Drug-Related Side Effects and Adverse Reactions , Prescription Drugs/toxicity , Calcineurin Inhibitors
3.
An. bras. dermatol ; 95(2): 173-179, Mar.-Apr. 2020. tab
Article in English | ColecionaSUS, LILACS, ColecionaSUS | ID: biblio-1130863

ABSTRACT

Abstract Background: Polymorphisms of the filaggrin 2 gene (rs 12568784 and rs 16899374) are associated with persistent atopic dermatitis in African American patients. Filaggrin 2 is a protein with a function similar to filaggrin and also encoded in the epidermal differentiation complex on chromosome 1q21. Objective: To evaluate the polymorphisms in the filaggrin 2 gene (rs 12568784 and rs 16899374) in children and adults with atopic dermatitis and to verify the association of these with the severity of the clinical picture, presence of other allergic diseases, and socio-demographic factors. Method: The study was carried out with patients and control group. Questionnaires were used to evaluate ethnicity, sex, age, family history, scoring, atopic dermatitis (SCORAD), among other parameters. Genotyping of the filaggrin 2 gene was performed by real-time polymerase chain reaction. Results: Forty-eight patients and 83 controls were evaluated. No correlation was found between the variables studied in patients with atopic dermatitis and polymorphisms, no significant difference between the prevalence of polymorphisms in the patients and in the control group p > 0.05. Study limits: The exclusive use of self-reported ethnicity information and the sample size. Results: The results of this work can be an incentive for the study of the polymorphisms in atopic dermaititis, considering the characteristic of the Brazilian multi ethnic population. Conclusion: This is an unpublished work in Brazil and the first study in the world to have a control group to evaluate alterations in the gene of filaggrin 2.


Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Adult , Young Adult , Polymorphism, Genetic/genetics , S100 Proteins/genetics , Dermatitis, Atopic/genetics , Socioeconomic Factors , Severity of Illness Index , Brazil , Case-Control Studies , Sex Factors , Cross-Sectional Studies , Surveys and Questionnaires , Dermatitis, Atopic/ethnology , Dermatitis, Atopic/pathology , Real-Time Polymerase Chain Reaction
4.
Rev. habanera cienc. méd ; 19(1): 40-47, ene.-feb. 2020. tab, graf
Article in Spanish | LILACS, CUMED | ID: biblio-1099144

ABSTRACT

Introducción: El factor de crecimiento endotelial vascular (VEGF) es una proteína involucrada en la proliferación y migración celular del endotelio vascular, en cuyo gen se ha reportado el polimorfismo +405G>C. Se reconoce que no existen reportes genéticos poblacionales de esta variante en Cuba, que permitan caracterizar los perfiles inmunogenéticos a nivel molecular, para su aplicación en estudios de asociación alélica. Objetivo: Describir las frecuencias génicas y genotípicas del polimorfismo VEGF (+405 G>C) en la población cubana. Material y Métodos: Se realizó un estudio observacional, descriptivo, transversal, entre octubre de 2017 y marzo de 2018 en 162 neonatos cubanos, de ambos sexos y sanos, para el pesquisaje neonatal de enfermedades metabólicas, cuyas muestras biológicas se conservaban en el banco de ADN del Centro Nacional de Genética Médica. La caracterización molecular de los genotipos fue realizada mediante un PCR-ARMS. Se utilizó el software GENEPOP 4.4 y el paquete estadístico STATISTICA 8.0 para los cálculos de las frecuencias génicas y genotípicas. Resultados: La población no se ajustó al modelo de equilibrio de Hardy Weinberg para el gen evaluado. Las frecuencias génicas estimadas para el polimorfismo VEGF (+405 G>C) fueron de 0,33 para el alelo G y de 0,67 para el alelo C. El cálculo de las frecuencias genotípicas resultó en 0,14, 0,37 y 0,49, para las variantes GG, GC y CC, respectivamente. Conclusiones: Las frecuencias alélicas VEGF.C fueron superiores a la del alelo VEGF.G, siendo el genotipo VEGF.GG el de menor representación en el conjunto estudiado(AU)


Introduction: The vascular endothelial growth factor (VEGF) is a protein involved in the proliferation and cell migration of the vascular endothelium. In its gene, +405G>C Polymorphism has been reported. There are no population genetic reports of this variant in Cuba that allow the characterization of immunogenetic profiles at a molecular level for its application to allelic association studies. Objectives: To describe the genic and genotypic frequencies of the VEGF (+405 G>C) polymorphism in the Cuban population. Material and Methods: A descriptive cross-sectional observational study was carried out from October 2017 to March 2018 in 162 Cuban healthy newborns of both sexes for the neonatal screening for metabolic diseases, whose biological samples were conserved in the DNA bank of the National Center for Medical Genetics. The molecular characterization of the genotypes was carried out using a PCR-ARMS. The GENEPOP 4.4 software and the statistical software package STATISTICA 8.0 were used for the analysis of genic and genotypic frequencies. Results: The population did not adjust to the Hardy-Weinberg equilibrium model for the gene evaluated. The estimated gene frequencies of VEGF +405 G> C polymorphism were 0.33 for the G allele and 0.67 for the C allele. The calculation of the genotypic frequencies resulted in 0.14, 0.37 and 0.49, for the variants GG, GC and CC, respectively. Conclusions: The allelic frequencies of VEGF.C were higher than the frequencies of the VEGF.G allele, being the VEGF GG the least represented genotype in the group studied(AU)


Subject(s)
Humans , Male , Female , Polymorphism, Genetic/genetics , Vascular Endothelial Growth Factor A/genetics , Gene Frequency/genetics , Genetics, Population/methods , Epidemiology, Descriptive , Cross-Sectional Studies , Cuba
5.
Rev. Soc. Bras. Med. Trop ; 53: e20190488, 2020. tab
Article in English | ColecionaSUS, LILACS, ColecionaSUS, SES-SP | ID: biblio-1136799

ABSTRACT

Abstract INTRODUCTION: Chagas disease (CD) is a neglected disease caused by the parasite Trypanosoma cruzi. One-third of infected patients will develop the cardiac form, which may progress to heart failure (HF). However, the factors that determine disease progression remain unclear. Increased angiotensin II activity is a key player in the pathophysiology of HF. A functional polymorphism of the angiotensin-converting enzyme (ACE) gene is associated with plasma enzyme activity. In CD, ACE inhibitors have beneficial effects supporting the use of this treatment in chagasic cardiomyopathy. METHODS: We evaluated the association of ACE I/D polymorphism with HF, performing a case-control study encompassing 343 patients with positive serology for CD staged as non-cardiomyopathy (stage A; 100), mild (stage B1; 144), and severe (stage C; 99) forms of Chagas heart disease. For ACE I/D genotyping by PCR, groups were compared using unconditional logistic regression analysis and adjusted for nongenetic covariates: age, sex, and trypanocidal treatment. RESULTS: A marginal, but not significant (p=0.06) higher prevalence of ACE I/D polymorphism was observed in patients in stage C compared with patients in stage A. Patients in stage C (CD with HF), were compared with patients in stages A and B1 combined into one group (CD without HF); DD genotype/D carriers were prevalent in the HF patients (OR = 2; CI = 1.013.96; p = 0.04). CONCLUSIONS: Our results of this cohort study, comprising a population from the Northeast region of Brazil, suggest that ACE I/D polymorphism is more prevalent in the cardiac form of Chagas disease with HF.


Subject(s)
Humans , Male , Female , Adult , Polymorphism, Genetic/genetics , Chagas Disease/genetics , Peptidyl-Dipeptidase A/genetics , Heart Failure/physiopathology , Brazil , Angiotensin-Converting Enzyme Inhibitors , Case-Control Studies , Cohort Studies , Chagas Disease/physiopathology , Disease Progression , Genotype , Heart Failure/genetics , Middle Aged
6.
Braz. j. med. biol. res ; 53(3): e9102, 2020. tab, graf
Article in English | LILACS | ID: biblio-1089346

ABSTRACT

The apolipoprotein B (APOB) gene contains several polymorphic sites described as risk modifiers for cardiovascular events. The objective of this study was to verify the association of the classic APOB Xba I polymorphism (rs693) with atherosclerotic risk factors in a segment of the Brazilian elderly population considering their usual dietary intake. Clinical and biochemical characteristics as well as total caloric and fat intake data were determined from 644 elderly individuals. Polymorphism analysis was performed by conventional polymerase chain reaction followed by enzyme restriction. Statistical analyses compared measures and proportions according to different APOB genotypic combinations. Statistically significant association was found between Xba I polymorphism and serum LDL, total cholesterol, and total lipid levels, with important elevations among T homozygotes compared to the other genotypes. There was homogeneity in all other parameters analyzed (including intake pattern), with a tendency for reduced levels of circulating apolipoprotein B among TT individuals. Our results pointed out that genetic variation in APOB affected the lipemic profile of elderly individuals in a context not biased by diet, generating a pattern suggestive of secretory disorder of lipoprotein particles, with possible implication in atherosclerotic risk.


Subject(s)
Humans , Male , Female , Middle Aged , Aged , Aged, 80 and over , Apolipoproteins B/genetics , Polymorphism, Genetic/genetics , Genetic Predisposition to Disease/genetics , Atherosclerosis/genetics , Feeding Behavior , Lipids/blood , Brazil , Energy Intake , Cardiovascular Diseases/blood , Risk Factors , Atherosclerosis/blood , Gene Frequency , Genotype
7.
Biol. Res ; 53: 21, 2020. tab, graf
Article in English | LILACS | ID: biblio-1124206

ABSTRACT

BACKGROUND: Liriodendron chinense ranges widely in subtropical China and northern Vietnam; however, it inhabits several small, isolated populations and is now an endangered species due to its limited seed production. The objective of this study was to develop a set of nuclear SSR (simple sequence repeats) and multiple chloroplast genome markers for genetic studies in L. chinense and their characterization in diverse germplasm. RESULTS: We performed low-coverage whole genome sequencing of the L. chinense from four genotypes, assembled the chloroplast genome and identified nuclear SSR loci by searching in contigs for SSR motifs. Comparative analysis of the four chloroplast genomes of L. chinense revealed 45 SNPs, 17 indels, 49 polymorphic SSR loci, and five small inversions. Most chloroplast intraspecific polymorphisms were located in the interspaces of single-copy regions. In total, 6147 SSR markers were isolated from low-coverage whole genome sequences. The most common SSR motifs were dinucleotide (70.09%), followed by trinucleotide motifs (23.10%). The motif AG/TC (33.51%) was the most abundant, followed by TC/AG (25.53%). A set of 13 SSR primer combinations were tested for amplification and their ability to detect polymorphisms in a set of 109 L. chinense individuals, representing distinct varieties or germplasm. The number of alleles per locus ranged from 8 to 28 with an average of 21 alleles. The expected heterozygosity (He) varied from 0.19 to 0.93 and the observed heterozygosity (Ho) ranged from 0.11 to 0.79. CONCLUSIONS: The genetic resources characterized and tested in this study provide a valuable tool to detect polymorphisms in L. chinense for future genetic studies and breeding programs.


Subject(s)
Polymorphism, Genetic/genetics , Genome, Plant/genetics , Liriodendron/genetics , Genome, Chloroplast/genetics , DNA Primers/genetics , DNA, Plant/genetics , Microsatellite Repeats , Alleles , Whole Genome Sequencing , Genotype
8.
Braz. arch. biol. technol ; 63: e20190403, 2020. tab, graf
Article in English | LILACS | ID: biblio-1132232

ABSTRACT

Abstract Evidence suggests that polymorphisms in the gene encoding a vitamin D receptor might affect blood pressure. The objective of this systematic review was to investigate the association between hypertension and vitamin D receptor (Fok I) gene polymorphism. A literature search was performed according to the PRISMA guidelines using the MEDLINE®/PubMed, Scopus, Cochrane Library CENTRAL, SciELO, and LILACS databases. The quality of case-control or cohort studies and studies based on cross-sectional methodology was evaluated using the Newcastle-Ottawa Scale and the protocol of Loney and coauthors [25], respectively. In this systematic literature search, 215 publications were identified, of which 10 were analyzed, including seven case-control studies, two cross-sectional studies, and one cohort study. The association between Fok I polymorphism and hypertension was reported in 60% of the publications and the risk for hypertension was shown to be related to FF and ff genotypes. In addition, Fok I polymorphism was shown to increase plasma renin activity, which plays an important role in regulating blood pressure. However, no association was observed between Fok I polymorphism and serum vitamin D levels. In conclusion, Fok I polymorphism plays an important role in hypertension.


Subject(s)
Humans , Polymorphism, Genetic/genetics , Receptors, Calcitriol/genetics , Hypertension/metabolism , Risk Factors
9.
Rev. Soc. Bras. Med. Trop ; 53: e20190210, 2020. tab
Article in English | LILACS | ID: biblio-1057300

ABSTRACT

Abstract INTRODUCTION: Hepatitis C virus (HCV) infection is involved in the pathogenesis of autoimmune and rheumatic disorders. Although the human platelet antigens (HPA) polymorphism are associated with HCV persistence, they have not been investigated in rheumatological manifestations (RM). This study focused on verifying associations between allele and genotype HPA and RM in patients with chronic hepatitis C. METHODS: Patients (159) with chronic hepatitis C of both genders were analyzed. RESULTS: Women showed association between HPA-3 polymorphisms and RM. CONCLUSIONS: An unprecedented strong association between rheumatological manifestations and HPA-3 polymorphism, possibly predisposing women to complications during the disease course, was observed.


Subject(s)
Humans , Male , Female , Adolescent , Adult , Aged , Aged, 80 and over , Young Adult , Polymorphism, Genetic/genetics , Rheumatic Diseases/etiology , Rheumatic Diseases/blood , Antigens, Human Platelet/genetics , Hepatitis C, Chronic/complications , Hepatitis C, Chronic/blood , Risk Factors , Antigens, Human Platelet/blood , Alleles , Genotype , Middle Aged
10.
Rev. cuba. hematol. inmunol. hemoter ; 35(4): e1086, oct.-dic. 2019. tab
Article in Spanish | LILACS, CUMED | ID: biblio-1093294

ABSTRACT

Introducción: El trasplante relacionado de células progenitoras hematopoyéticas (TCPH) es una alternativa terapéutica curativa para los pacientes con ciertos tipos de hemopatías o de inmunodeficiencias, en la que se selecciona como donante a un familiar del receptor. Objetivo: Caracterizar el sistema de antígenos leucocitarios humanos (HLA) en receptores de TCPH relacionado. Métodos: Se realizó un estudio descriptivo y transversal en el departamento de Histocompatibilidad del Instituto de Hematología e Inmunología desde enero 2013 hasta diciembre de 2015. Se tipificaron 75 genes HLA mediante la técnica de reacción en cadena de la polimerasa con cebadores de secuencia específico, de baja resolución a 117 pacientes con criterio de TCPH. Para el análisis inmunogenético se empleó el programa Arlequín 3.5.2.2. Resultados: Fueron más frecuentes los genes HLA-A*02, HLA-B*35, HLA-DQB1*03, HLA-DRB1*03 y HLA-DRB1*04, los haplotipos de dos loci HLA-A*02 B*35, HLA-DQB1*03 DRB1*04 y el haplotipo extendido HLA-A*03 B*07 DQB1*06 DRB1*15. Conclusiones: Los genes del sistema HLA en pacientes cubanos candidatos a TCPH relacionado presentaron frecuencias similares a las descritas en poblaciones generales de Cuba y el mundo, aunque con características distintivas en algunos genes y haplotipos(AU)


Introduction: Related hematopoietic progenitor cell (TCPH) transplantation is a curative therapeutic alternative for patients with certain types of hemopathies or immunodeficiencies, in which a recipient family member is selected as a donor. Objective: To characterize the human leukocyte antigen (HLA) system in related TCPH receptors. Methods: A descriptive and cross-sectional study was conducted in the Histocompatibility department of the Institute of Hematology and Immunology from January 2013 to December 2015. 75 HLA genes were typed using the polymerase chain reaction technique with specific sequence primers, from Low resolution to 117 patients with TCPH criteria. For the immunogenetic analysis, the Harlequin 3.5.2.2 program was used. Results: The genes HLA-A * 02, HLA-B * 35, HLA-DQB1 * 03, HLA-DRB1 * 03 and HLA-DRB1 * 04, the haplotypes of two HLA-A * 02 B * 35 loci were more frequent , HLA-DQB1 * 03 DRB1 * 04 and the extended haplotype HLA-A * 03 B * 07 DQB1 * 06 DRB1 * 15. Conclusions: The genes of the HLA system in Cuban patients related to TCPH presented frequencies similar to those described in general populations of Cuba and the world, although with distinctive characteristics in some genes and haplotypes(AU)


Subject(s)
Humans , Male , Female , Polymorphism, Genetic/genetics , Hematopoietic Stem Cell Transplantation/methods , Histocompatibility Antigens/therapeutic use , Epidemiology, Descriptive , Cross-Sectional Studies , Cuba
11.
Arch. endocrinol. metab. (Online) ; 63(5): 501-508, Sept.-Oct. 2019. tab
Article in English | LILACS | ID: biblio-1038497

ABSTRACT

ABSTRACT Objective To investigate the association of the genetic variants of the folate metabolism genes (MTHFR C677T; MTHFR A1298C; MTR A2756G; MTRR A66G and RFC-1 A80G) with the development of polycystic ovary syndrome (PCOS). Subjects and methods This study included 203 women (99 women with PCOS and 104 controls). The genotyping was performed by PCR-RFLP. Chi-squared test and multiple logistic regression were used in the statistical analysis. Haplotype analysis was conducted using the SNPstat program. The results were presented in odds ratio (OR) and confidence interval of 95% (CI-95%), with a significance level of 5% (p ≤ 0.05). Results The genotypic distribution of the RFC-1 A80G polymorphism showed significant difference between the two groups, showing that the heterozygous genotype (AG genotype) was most frequent in controls. The polymorphic homozygous (GG genotype) of MTRR A66G polymorphism were most frequent in controls. The T-C haplotype MTHFR C677T and A1298C polymorphisms were more frequent in the control group (OR = 0.19; CI 95% — 0.04 to 0.93 e p = 0.042). The multivariate analysis evidenced that family history of PCOS was more frequent in the PCOS group (OR = 3.29; CI 95% — 1.48 to 7.31; p = 0.003). Conclusion In our casuistry, the polymorphic homozygous of MTRR A66G polymorphism gene and heterozygous of RFC-1 A80G polymorphism gene, the haplotype T-C C677T and A1298C polymorphisms of MTHFR gene, can be associated with protective factors for the disease.


Subject(s)
Humans , Female , Adult , Young Adult , Polycystic Ovary Syndrome/genetics , Polymorphism, Genetic/genetics , Folic Acid/genetics , Polycystic Ovary Syndrome/metabolism , Polymorphism, Restriction Fragment Length , Case-Control Studies , Risk Factors , Genetic Predisposition to Disease , Polymorphism, Single Nucleotide , Folic Acid/metabolism , Genotype
12.
Arch. endocrinol. metab. (Online) ; 63(4): 402-410, July-Aug. 2019. tab, graf
Article in English | LILACS | ID: biblio-1019361

ABSTRACT

ABSTRACT Objective The increased prevalence of obesity and associated comorbidities, such as cardiovascular and metabolic diseases, has gained attention worldwide, and the renin-angiotensin system (RAS) has been pointed out as a possible link. Thus, the present study aimed to verify the possible association between angiotensinogen (AGT) or angiotensin-converting enzyme (ACE) polymorphisms with overweight and obesity in adults. Subjects and methods The present investigation was a population-based cross-sectional study including 1,567 individuals from an urban area in Brazil. Anthropometric, clinical and biochemical parameters were evaluated, and all individuals were genotyped for the ACE I/D and AGT M/T polymorphisms. Results The prevalence of overweight was higher among men, whereas obesity was more prevalent among women. However, the frequency of ACE or AGT polymorphisms was similar among body mass index (BMI) categories. In addition, the mean age-adjusted BMI averages did not change significantly for ACE or AGT polymorphisms, regardless of sex or BMI category. The age-adjusted BMI average for the combination of ACE and AGT genotypes evidenced no significant differences regardless of sex or BMI categories. Results were similar when BMI was replaced by waist circumference (WC). Conclusions We were not able to find any associations between BMI and WC (overweight/obesity) and ACE and AGT polymorphisms, indicating that the RAS system might not be involved in overweight and obesity, at least based on genetic backgrounds. However, further studies must measure RAS components to elucidate this question.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Polymorphism, Genetic/genetics , Renin-Angiotensin System/genetics , Overweight/genetics , Obesity/genetics , Blood Pressure , Brazil , Body Mass Index , Angiotensinogen/genetics , Cross-Sectional Studies , Sex Distribution , Age Distribution , Peptidyl-Dipeptidase A/genetics , Waist Circumference , Gene Frequency/genetics
13.
J. pediatr. (Rio J.) ; 95(3): 350-357, May-June 2019. tab
Article in English | LILACS | ID: biblio-1012602

ABSTRACT

Abstract Objective: The prevalence of non-alcoholic fatty liver disease in children has risen significantly, owing to the worldwide childhood obesity epidemic in the last two decades. Non-alcoholic fatty liver disease is closely linked to sedentary lifestyle, increased body mass index, and visceral adiposity. In addition, individual genetic variations also have a role in the development and progression of non-alcoholic fatty liver disease. The aim of this study was to investigate the gene polymorphisms of MCP-1 (-2518 A/G) (rs1024611), CCR-2 (190 G/A) (rs1799864), ABCA1 (883 G/A) (rs4149313), and IL-17A (-197 G/A) (rs2275913) in obese Turkish children with non-alcoholic fatty liver disease. Methods: The study recruited 186 obese children aged 10 -17 years, including 101 children with non-alcoholic fatty liver disease and 85 children without non-alcoholic fatty liver disease. Anthropometric measurements, insulin resistance, a liver panel, a lipid profile, liver ultrasound examination, and genotyping of the four variants were performed. Results: No difference was found between the groups in respect to age and gender, body mass index, waist/hip ratio, or body fat ratio. In addition to the elevated ALT levels, AST and GGT levels were found significantly higher in the non-alcoholic fatty liver disease group compared to the non non-alcoholic fatty liver disease group (p < 0.05). The A-allele of IL-17A (-197 G/A) (rs2275913) was associated with non-alcoholic fatty liver disease (odds ratio [OR] 2.05, 95% confidence interval: 1.12 -3.77, p = 0.02). Conclusions: The findings of this study suggest that there may be an association between IL-17A (-197 G/A) (rs2275913) polymorphism and non-alcoholic fatty liver disease development in obese Turkish children.


Resumo Objetivo: A prevalência de doença hepática gordurosa não alcoólica em crianças aumentou significativamente devido à epidemia de obesidade infantil em todo o mundo nas últimas duas décadas. A doença hepática gordurosa não alcoólica está intimamente ligada ao estilo de vida sedentário, ao aumento do índice de massa corporal e à adiposidade visceral. Além disso, variações genéticas individuais também têm um papel no desenvolvimento e na progressão da doença hepática gordurosa não alcoólica. O objetivo deste estudo foi investigar os polimorfismos genéticos MCP-1 (-2518 A/G) (rs1024611), CCR-2 (190 G/A) (rs1799864), ABCA1 (883 G/A) (rs4149313) e IL-17A (-197 G/A) (rs2275913) em crianças turcas obesas com doença hepática gordurosa não alcoólica. Métodos: O estudo recrutou 186 crianças obesas entre 10 e 17 anos, inclusive 101 crianças com doença hepática gordurosa não alcoólica e 85 crianças sem doença hepática gordurosa não alcoólica. Medidas antropométricas, resistência à insulina, painel hepático, perfil lipídico, exame ultrassonográfico do fígado e genotipagem de quatro variantes foram feitos. Resultados: Nenhuma diferença foi encontrada entre os grupos em relação à idade e sexo, índice de massa corporal, relação cintura/quadril ou proporção de gordura corporal. Além dos níveis elevados de ALT, os níveis de AST e GGT foram significativamente maiores no grupo doença hepática gordurosa não alcoólica em comparação com o grupo não doença hepática gordurosa não alcoólica (p < 0,05). O alelo A de IL-17A (-197 G/A) (rs2275913) foi associado à doença hepática gordurosa não alcoólica (odds ratio [OR] 2,05, intervalo de confiança de 95%: 1,12-3,77, p = 0,02). Conclusões: Os achados deste estudo sugerem que pode haver uma associação entre o polimorfismo IL-17A (-197 G/A) (rs2275913) e o desenvolvimento da doença hepática gordurosa não alcoólica em crianças turcas obesas.


Subject(s)
Humans , Male , Female , Child , Adolescent , Polymorphism, Genetic/genetics , Pediatric Obesity/complications , Non-alcoholic Fatty Liver Disease/genetics , Body Mass Index , Chemokine CCL2/genetics , Genetic Predisposition to Disease , Interleukin-17/genetics , Receptors, CCR2/genetics , ATP Binding Cassette Transporter 1/genetics , Non-alcoholic Fatty Liver Disease/complications , Genotype
14.
Arch. endocrinol. metab. (Online) ; 63(3): 272-279, May-June 2019. tab, graf
Article in English | LILACS | ID: biblio-1011169

ABSTRACT

ABSTRACT Objective The aims of this study were to investigate changes in serum paraoxonase 1 (PON1) activity in women at the pre and postmenopausal stages and its association with the PON1 C(-107)T polymorphism and food intake profile. Subjects and methods A cross-sectional study with female patients aged between 35 and 59 years old was conducted. Women were divided into two groups: premenopausal (n = 40) and postmenopausal (n = 36). Women enrolled in the study had serum PON1, total cholesterol, HDL, LDL, glucose and HbA1c, as well as the BMI measured. Additionally, women were genotyped for the PON1 T(-107)C polymorphism and the food intake profile was obtained through interview. Results Glucose (p = 0.03), HbA1c (p = 0.002) and total cholesterol (p = 0.002)concentrations were higher in post than premenopausal women, however PON1 activity was not different (p > 0.05). Carriers of the C allele had higher PON1 activity (CC: 88.9 ± 6.5 U/mL and CT: 79.9 ± 4.7 U/mL) than women of the TT genotype (66.6 ± 5.9 U/mL) (p < 0.05). However, the model predicting PON1 activity was slightly better when genotype, total fat and cholesterol content in the diet were all included. Conclusion In sum, we observed that the PON1 C(-107)T genotype was the major regulator of PON1 activity, and menopause had no effect on PON1 activity. The lipid and glycemic profile were altered in postmenopausal women.


Subject(s)
Humans , Female , Adult , Polymorphism, Genetic/genetics , Premenopause/blood , Postmenopause/blood , Aryldialkylphosphatase/blood , Eating , Cross-Sectional Studies , Premenopause/metabolism , Postmenopause/metabolism , Aryldialkylphosphatase/genetics , Genotype
15.
Arch. endocrinol. metab. (Online) ; 63(3): 250-257, May-June 2019. tab, graf
Article in English | LILACS | ID: biblio-1011159

ABSTRACT

ABSTRACT Objective To verify the presence of variants in HNF1B in a sample of the Brazilian population selected according to the presence of renal cysts associated with hyperglycemia. Subjects and methods We evaluated 28 unrelated patients with clinical suspicion of HNF1B mutation because of the concomitant presence of diabetes mellitus (DM) or prediabetes and renal cysts. Genotyping was accomplished using Sanger sequencing or multiplex ligation-dependent probe amplification (MLPA). In positive cases, available relatives were recruited. Results We found two patients with HNF1B mutations. The first presented the variant p.Pro328Leufs*48(c.983delC) and had DM, renal cysts, and hypomagnesemia. The second presented a heterozygous whole gene deletion in HNF1B, DM, renal cysts, body and tail pancreatic agenesis, and hypomagnesemia; this alteration was also found in his two siblings and his father. Conclusion The recruitment of suspected cases of HNF1B gene mutations in Brazilians due to hyperglycemia and renal cysts presents two positive cases. Our cases contribute to the annotation of clinical and biochemical phenotypes of this rare form of maturity-onset diabetes of the young (MODY).


Subject(s)
Humans , Adult , Middle Aged , Diabetic Nephropathies/genetics , Kidney Diseases, Cystic/genetics , Hepatocyte Nuclear Factor 1-beta/genetics , Hyperglycemia/genetics , Mutation , Phenotype , Polymorphism, Genetic/genetics , Brazil , Cohort Studies , Gene Deletion , Diabetic Nephropathies/complications , Kidney Diseases, Cystic/complications , Hyperglycemia/complications
16.
Acta bioquím. clín. latinoam ; 53(2): 183-192, jun. 2019. ilus, tab
Article in Spanish | LILACS | ID: biblio-1019252

ABSTRACT

El factor von Willebrand (VWF) es una glucoproteína altamente polimórfica. Se describen aquí diferentes variantes genéticas asintomáticas altamente frecuentes, sus influencias sobre los estudios fenotípicos, en los niveles plasmáticos del mismo, y por consiguiente en diferentes entidades clínicas. Se detallan también variaciones en la frecuencia alélica según las etnias analizadas. El objetivo de este trabajo fue alertar sobre la necesidad de conocer la frecuencia de los polimorfismos en la población normal para evitar posibles conclusiones erróneas al momento del hallazgo de cambios no previamente reportados en la literatura científica.


The von Willebrand factor (VWF) is a highly polymorphic glycoprotein. Several frequent asymptomatic genetic variants, their influences on phenotypic studies, on the plasma levels of VWF, and therefore in different clinical entities are described here. Variations in allele frequency in different ethnic groups analyzed are also detailed. The aim of this study was to highlight the need to know the frequency of polymorphisms in the normal population to avoid possible erroneous conclusions at the time of finding genetic variants not previously reported in the scientific literature.


O fator von Willebrand (VWF) é uma glicoproteína altamente polimórfica. Diversas variantes genéticas assintomáticas muito frequentes são descritas aqui, suas influências em estudos fenotípicos, nos níveis plasmáticos de VWF e, portanto, em diferentes entidades clínicas. Variações na frequência alélica também são detalhadas segundo diferentes grupos étnicos analisados. O objetivo desse trabalho é alertar sobre a necessidade de conhecer a frequência dos polimorfismos na população normal, a fim de evitar possíveis conclusões errôneas no momento de encontrar variações genéticas não relatadas anteriormente na literatura científica.


Subject(s)
Polymorphism, Genetic/genetics , Thrombosis , Hemostasis , Venous Thromboembolism/complications , Venous Thromboembolism/diagnosis , Pharmacogenomic Variants , Genotype
17.
An. bras. dermatol ; 94(2): 198-203, Mar.-Apr. 2019. tab, graf
Article in English | LILACS | ID: biblio-1001146

ABSTRACT

Abstract BACKGROUND: Psoriasis is a systemic inflammatory disorder that involves complex pathogenic interactions between the innate and adaptive immune systems. The most accepted mechanism in the etiopathogenesis of psoriasis is the induction of inflammation with keratinocyte hyperproliferation. Granulysin (GNLY) is a cytolytic antimicrobial peptide (AMP) that is secreted together with granzyme and perforin from the granules of human cytotoxic T lymphocytes (CTLs) and natural killer (NK) cells. It has been immunohistochemically proven that the expression of granulysin is increased in lesions of psoriasis. OBJECTIVE: This study aimed to investigate the relationship between psoriasis disease and granulysin gene polymorphisms. METHODS: GNLY rs7908 and rs10180391 polymorphisms were studied by PCR-RFLP in 100 psoriasis patients under treatment in the Dermatology Polyclinic of Bulent Ecevit University. In addition, 100 healthy individuals with similar age and sex distribution were used as a control group. RESULTS: In the control group, GNLY rs7908 CC genotype was significantly higher than in psoriasis patients (P= 0.031; OR= 0.305; Cl= 0.305 (0.121 - 0.773). In our study, the genotype distributions in patients and control groups were GNLY rs7908 (SNP) GG (51%, 37%), GC (41%, 44%), CC (8%, 19%); GNLY rs10180391 (SNP) from the CC (41%, 44%), CT (42%, % 41), TT (17%, 15%). STUDY LIMITATIONS: The study only included Turkish patients. CONCLUSION: Our findings showed that GNLY rs7908 CC genotype and C allele had a protective effect against psoriasis and decreased the disease severity (according to PASI score), whereas rs10180391 SNP did not show any effective role in psoriasis pathogenesis.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Polymorphism, Genetic/genetics , Psoriasis/genetics , Antigens, Differentiation, T-Lymphocyte/genetics , Psoriasis/etiology , Severity of Illness Index , Case-Control Studies , Gene Expression , Protective Agents , Alleles , Genotype
18.
Rev. bras. ginecol. obstet ; 41(3): 164-169, Mar. 2019. tab, graf
Article in English | LILACS | ID: biblio-1003548

ABSTRACT

Abstract Objective To evaluate the C-1562T matrix metalloproteinase 9 (MMP9) gene polymorphisms as risk factors related to the occurrence of pelvic organ prolapse (POP) and to identifytheclinicalvariablesassociatedwith theoccurrenceof thedisease.Epidemiological studies of risk factors for POP do not explain why nulliparous women with no known risk factors also develop POP. Therefore, genetic factors may be involved. Methods Cohort study with 86 women with symptomatic POP (cases), and 158 women withoutapriororcurrentdiagnosisof thisdisorder(controls).Thegroupswereanalyzedfor the presence of MMP9 gene polymorphisms. Genotyping was performed using polymerase chainreaction(PCR)with DNA obtained froma peripheral venouspuncture ofboth groups. Results There were no differences between the cases and controls even when we grouped the mutant homozygous and heterozygous genotypes. The analysis of patients with a complete absence of POP versus patients with total POP also showed no statistically significant differences. Ageand home birth were found to be independent risk factors for POP. Conclusions There were no statistically significant differences in the C-1562T MMP9 polymorphisms between the cases and controls in Brazilian women.


Resumo Objetivo Avaliar polimorfismos do gene C-1562T do gene matriz de metaloproteinase 9 (MMP9) como fatores de risco relacionados à ocorrência de prolapsode órgão pélvico(POP)e identificar variáveis clínicas associadas à ocorrência da doença. Estudos epidemiológicos de fatores de risco para POP não explicam por que mulheres nulíparas sem fatores de risco conhecidos também desenvolvemPOP. Portanto, fatores genéticospodem estar envolvidos. Métodos Estudo de coorte com 86 mulheres com POP sintomático (casos) e 158 mulheres sem diagnóstico prévio ou atual deste transtorno (controles). Os grupos foram analisados quanto à presença de polimorfismo do gene MMP9. A genotipagem foi realizada por reação em cadeia da polimerase (RCP) com DNA obtido por punção venosa periférica dos indivíduos em ambos os grupos. Resultados Não houve diferenças entre os casos e controles, mesmo quando agrupamos os genótipos mutantes homozigotos e heterozigotos. A análise de pacientes com ausência completa de POP versus pacientes com POP total também não mostrou diferenças estatisticamente significativas. Idade e parto domiciliar foram considerados fatores de risco independentes para o POP. Conclusão Não houve diferenças estatisticamente significativas no polimorfismo C-1562T do gene MMP9 entre os casos e controles em mulheres brasileiras.


Subject(s)
Humans , Female , Aged , Parity , Pelvic Organ Prolapse/genetics , Home Childbirth , Polymorphism, Genetic/genetics , Case-Control Studies , Risk Factors , Age Distribution , Genetic Predisposition to Disease/genetics , Matrix Metalloproteinase 9/genetics , Genotype , Middle Aged
19.
Arq. bras. med. vet. zootec. (Online) ; 71(1): 303-313, jan.-fev. 2019. tab, graf
Article in English | LILACS, VETINDEX | ID: biblio-989383

ABSTRACT

The present study aimed to evaluate the occurrence of polymorphisms in Diacylglycerol acyltransferase (DGTA-1 and 2), Fatty acid synthase (FASN), Stearoyl-CoA desaturase (SCD) genes and the Thioesterase domain of FASN (TE-FASN) gene that may be related to the lipid profile. In the experiment, a total of 84 sheep from different genetic groups were used. For the evaluation of the polymorphism of the genes, PCR-Single Strand Conformation Polymorphism (SSCP) technique and subsequent sequencing were used. In DGAT-2 gene, four genotypes were identified with the presence of 6 polymorphisms, with two (c.229T> C; c.255T> C) that resulted into the exchange of phenylalanine by leucine. In FASN gene, two genotypes were identified. In TE-FASN gene, three genotypes and 17 polymorphisms were identified. DGAT-1 and SCD genes did not reveal the occurrence of polymorphism. There was difference in relation to C14: 0, C18: 0 fatty acids and Δ9-desaturase C18 for DGAT-2 gene and of C18: 2ω6t for TE-FASN. There were differences among the genetic groups for C10: 0, C12: 0, C17: 0, C18: 2ω6t, C18: 3ω3, C20: 2, total of ω3, ω3/ω6 and atherogenicity index. There is occurrence of polymorphism of DGAT-2 and TE-FASN genes and these should be further studied in sheep since they revealed influence of the genotypes on the fatty acid profile.(AU)


O presente estudo teve o objetivo de avaliar a ocorrência de polimorfismos nos genes Diacilglicerol aciltransferase (DGTA1 e 2), Ácido graxo sintase (FASN), Estearoil-CoA dessaturase (SCD) e o Domínio da tioesterase do gene FASN (TE-FASN), que possam estar relacionados ao perfil lipídico. No experimento, foram utilizados um total de 84 ovinos de diferentes grupos genéticos. Para avaliação do polimorfismo dos genes, foi utilizada a técnica de polimorfismo de conformação de cadeia simples (PCR-SSCP) e posterior sequenciamento. No gene DGAT-2, foram identificados quatro genótipos com a presença de seis polimorfismos, com dois (c.229T>C; c.255T>C) que resultaram na troca da fenilalanina por leucina. No gene FASN, foram identificados dois genótipos. No gene TE-FASN, foram identificados três genótipos e 17 polimorfismos. Os genes DGAT-1 e SCD não revelaram a ocorrência de polimorfismo. Houve diferença em relação aos ácidos graxos C14:0, C18:0 e ∆9-desaturaseC18 para o gene DGAT-2 e de C18:2ω6t para TE-FASN. Houve diferença entre os grupos genéticos para C10:0, C12:0, C17:0, C18:2ω6t, C18:3ω3, C20:2, total de ω3, ω3/ω6 e índice de aterogenicidade. Há ocorrência de polimorfismo dos genes DGAT-2 e TE-FASN, e estes devem ser mais estudados em ovinos, pois revelaram influência dos genótipos sobre o perfil de ácidos graxos.(AU)


Subject(s)
Animals , Polymorphism, Genetic/genetics , Sheep/metabolism , Fatty Acids/analysis , Fatty Acids/classification
20.
Rev. Col. Bras. Cir ; 46(1): e2068, 2019. tab, graf
Article in Portuguese | LILACS | ID: biblio-990362

ABSTRACT

RESUMO Objetivo: comparar o polimorfismo dos genes Glutationa S-transferase teta 1 (GSTT1) e Glutationa S-transferase mu 1 (GSTM1) da área do tumor com as margens proximal e distal de espécimes de estômago ressecados de pacientes com câncer gástrico, e investigar a presença do DNA do vírus Epstein-Barr (EBV) e Helicobacter pylori. Métodos: coletamos prospectivamente amostras teciduais da área do tumor e das margens de ressecção proximal e distal dos estômagos de dez pacientes com adenocarcinoma gástrico submetidos à gastrectomia com linfadenectomia D2 e submetemos esses espécimes à extração de DNA. Comparamos a área do tumor com as margens proximal e distal dos estômagos ressecados para o polimorfismo dos genes GSTT1 e GSTM1 e investigamos a presença de DNA do EBV e H. pylori. Utilizamos o exon 5 do gene p53 como controle interno da reação de PCR multiplex. Resultados: em um paciente, detectamos genótipos GSTT1 e GSTM1 nulos na área do tumor, em contraste com a presença de ambos os genes nas margens proximal e distal. Encontramos DNA do EBV e H. pylori na área do tumor e também nas margens proximal e distal. Em outro paciente, a margem proximal foi negativa para GSTT1 e o DNA do EBV foi negativo na margem distal. Em três pacientes, o EBV-DNA foi negativo apenas na margem distal. Conclusão: este é o primeiro relato em que diferentes genótipos, infecção por EBV-DNA e H. pylori foram observados no mesmo paciente, indicando provável deleção desses genes em resposta à progressão tumoral e heterogeneidade intratumoral.


ABSTRACT Objective: to compare the polymorphism of the Glutathione S-transferase theta 1 (GSTT1) and Glutathione S-transferase mu 1 (GSTM1) genes from the tumor area with the proximal and distal margins of stomach specimens resected from patients with gastric cancer, and to investigate the presence of Epstein-Barr virus (EBV) DNA and Helicobacter pylori. Methods: we prospectively collected tissue specimens from the tumor area and from the proximal and distal resection margins of the stomachs of ten patients with gastric adenocarcinoma who underwent gastrectomy with D2 lymphadenectomy, and submitted these specimens to DNA extraction. We compared the tumor area with the proximal and distal margins of the resected stomachs for polymorphism of GSTT1 and GSTM1 genes and investigated the presence of EBV-DNA and H. pylori. We used the p53 exon 5 gene as an internal control of the multiplex PCR reaction. Results: in one patient, we detected null GSTT1 and GSTM1 genotypes in the tumor area, in contrast to the presence of both genes in the proximal and distal margins. We found EBV-DNA and H. pylori in the tumor area and also in the proximal and distal margins. In another patient, the proximal margin was negative for GSTT1, and EBV-DNA was negative in the distal margin. In three patients, EBV-DNA was negative only in the distal margin. Conclusion: this is the first report where different genotypes, EBV-DNA and H. pylori infection were observed in the same patient, indicating a probable deletion of these genes in response to tumor progression and intratumoral heterogeneity.


Subject(s)
Humans , Male , Female , Aged , Polymorphism, Genetic/genetics , Stomach Neoplasms/surgery , Adenocarcinoma/surgery , Helicobacter pylori/genetics , Herpesvirus 4, Human/genetics , Stomach Neoplasms/enzymology , Stomach Neoplasms/microbiology , Stomach Neoplasms/virology , Adenocarcinoma/enzymology , Adenocarcinoma/microbiology , Adenocarcinoma/virology , Polymerase Chain Reaction , Prospective Studies , Risk Factors , Helicobacter pylori/isolation & purification , Herpesvirus 4, Human/isolation & purification , Genotype , Glutathione Transferase/genetics , Middle Aged
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