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1.
Rev Assoc Med Bras (1992) ; 70(5): e20231382, 2024.
Article in English | MEDLINE | ID: mdl-38775532

ABSTRACT

OBJECTIVE: The aim of this study was to determine the allelic and genotypic frequencies of the polymorphisms, rs2910164 miR-146a and rs11614913 miR-196a2, by investigating their association with endometriosis. METHODS: This is a case-control study performed with approximately 120 women. The polymorphisms were determined by real-time polymerase chain reaction. For the statistical analysis, the chi-square and logistic regression tests were used. RESULTS: There were no significant differences in the genotype and allele frequencies of rs2910164 and rs11614913 between cases and controls. The frequencies in both polymorphisms are in accordance with Hardy-Weinberg equilibrium regarding miR-146a (patients: χ2=1.64, p=0.20; controls: χ2=0.25, p=0.62) and miR-196a2 (patients: χ2=0.58, p=0.44; controls: χ2=2.78, p=0.10). No relationship was observed between rs2910164 and rs11614913 and endometriosis in the inheritance models analyzed. CONCLUSION: In this study, our results show that the studied polymorphisms are not implicated in the development of endometriosis.


Subject(s)
Endometriosis , Gene Frequency , Genetic Predisposition to Disease , MicroRNAs , Polymorphism, Single Nucleotide , Humans , Endometriosis/genetics , Female , MicroRNAs/genetics , Case-Control Studies , Adult , Brazil , Genetic Predisposition to Disease/genetics , Polymorphism, Single Nucleotide/genetics , Gene Frequency/genetics , Genotype , Real-Time Polymerase Chain Reaction , Young Adult , Middle Aged
2.
Rev. Assoc. Med. Bras. (1992, Impr.) ; 70(5): e20231382, 2024. tab
Article in English | LILACS-Express | LILACS | ID: biblio-1558927

ABSTRACT

SUMMARY OBJECTIVE: The aim of this study was to determine the allelic and genotypic frequencies of the polymorphisms, rs2910164 miR-146a and rs11614913 miR-196a2, by investigating their association with endometriosis. METHODS: This is a case-control study performed with approximately 120 women. The polymorphisms were determined by real-time polymerase chain reaction. For the statistical analysis, the chi-square and logistic regression tests were used. RESULTS: There were no significant differences in the genotype and allele frequencies of rs2910164 and rs11614913 between cases and controls. The frequencies in both polymorphisms are in accordance with Hardy-Weinberg equilibrium regarding miR-146a (patients: χ2=1.64, p=0.20; controls: χ2=0.25, p=0.62) and miR-196a2 (patients: χ2=0.58, p=0.44; controls: χ2=2.78, p=0.10). No relationship was observed between rs2910164 and rs11614913 and endometriosis in the inheritance models analyzed. CONCLUSION: In this study, our results show that the studied polymorphisms are not implicated in the development of endometriosis.

3.
Rev Assoc Med Bras (1992) ; 68(6): 785-791, 2022.
Article in English | MEDLINE | ID: mdl-35766692

ABSTRACT

OBJECTIVE: The polycystic ovary syndrome is the most common endocrine disorder, characterized by the dysregulation of ovarian angiogenesis. This alteration can be related to changes in the activities of the vascular endothelial growth factor (VEGF) gene. Single-nucleotide polymorphisms have been observed in the promoter, intronic, and untranslated regions of the VEGF gene, and several studies have suggested that these polymorphisms may be associated with the risk of polycystic ovary syndrome. This study aimed to investigate the association between rs2010963 and rs833061 polymorphisms and haplotypes of VEGF in the etiology of polycystic ovary syndrome. METHODS: A total of 210 women, 102 diagnosed with polycystic ovary syndrome and 108 controls, participated in this study. The genotyping of the samples was performed by PCR-RFLP and real-time PCR for rs2010963 and rs833061 polymorphisms, respectively. The statistical analyses were performed by the chi-square test and logistic regression model. RESULTS: The clinical characteristics of the patients showed that 75.8% of the patients did not become pregnant, 36.3% had a family history of polycystic ovary syndrome, 58.6% were obese, and about 60% had clinical characteristics of hyperandrogenism. There were no associations between the distribution of rs2010963 (OR 1.24; 95%CI 0.60-2.57; p=0.56) and rs833061 (OR 0.78; 95%CI 0.32-1.92; p=0.59) in patients and controls. CONCLUSIONS: The patients with polycystic ovary syndrome have similar rates of VEGF polymorphisms rs2010963 and rs833061 on the general population.


Subject(s)
Polycystic Ovary Syndrome , Vascular Endothelial Growth Factor A , Case-Control Studies , Female , Genetic Predisposition to Disease , Genotype , Humans , Polycystic Ovary Syndrome/diagnosis , Polycystic Ovary Syndrome/genetics , Polymorphism, Single Nucleotide , Pregnancy , Vascular Endothelial Growth Factor A/genetics
4.
Rev. Assoc. Med. Bras. (1992, Impr.) ; 68(6): 785-791, June 2022. tab
Article in English | LILACS-Express | LILACS | ID: biblio-1387154

ABSTRACT

SUMMARY OBJECTIVE: The polycystic ovary syndrome is the most common endocrine disorder, characterized by the dysregulation of ovarian angiogenesis. This alteration can be related to changes in the activities of the vascular endothelial growth factor (VEGF) gene. Single-nucleotide polymorphisms have been observed in the promoter, intronic, and untranslated regions of the VEGF gene, and several studies have suggested that these polymorphisms may be associated with the risk of polycystic ovary syndrome. This study aimed to investigate the association between rs2010963 and rs833061 polymorphisms and haplotypes of VEGF in the etiology of polycystic ovary syndrome. METHODS: A total of 210 women, 102 diagnosed with polycystic ovary syndrome and 108 controls, participated in this study. The genotyping of the samples was performed by PCR-RFLP and real-time PCR for rs2010963 and rs833061 polymorphisms, respectively. The statistical analyses were performed by the chi-square test and logistic regression model. RESULTS: The clinical characteristics of the patients showed that 75.8% of the patients did not become pregnant, 36.3% had a family history of polycystic ovary syndrome, 58.6% were obese, and about 60% had clinical characteristics of hyperandrogenism. There were no associations between the distribution of rs2010963 (OR 1.24; 95%CI 0.60-2.57; p=0.56) and rs833061 (OR 0.78; 95%CI 0.32-1.92; p=0.59) in patients and controls. CONCLUSIONS: The patients with polycystic ovary syndrome have similar rates of VEGF polymorphisms rs2010963 and rs833061 on the general population.

5.
Rev Assoc Med Bras (1992) ; 66(11): 1560-1565, 2020 Nov.
Article in English | MEDLINE | ID: mdl-33295410

ABSTRACT

BACKGROUND: This study aimed to investigate the deletion polymorphisms of the genes of the glutathione S-transferase family GSTT1 and GSTM1 in patients with Polycystic Ovarian Syndrome (PCOS), comparing them with a control population. METHODS: Blood was collected from 219 women (110 with PCOS and 109 controls) and genomic DNA was extracted. For the analysis of polymorphisms, the technique used was multiplex PCR. In the statistical analysis, the chi-square test and multiple logistic regression were used. RESULTS: There is no association between the GSTM1 null and GSTT1 null genotypes with PCOS when analyzed separately (P = 0.616 and P = 0.188). The analysis of the combined genotypes showed differences between the groups (P < 0.05), evidencing that the genotypic combination GSTT1 positive and GSTM1 negative is more frequent among patients. In the multivariate analysis, smoking was more frequent in the control group (OR = 0.22; 95% CI - 0.87-0.57; P = 0.002) while the presence of a family history of PCOS (OR = 2, 96; 95% CI - 1.54-5.68; P = 0.001) was more frequent in women with PCOS. CONCLUSIONS: In the studied sample, the deletion polymorphisms of the GSTT1 and GSTM1 genes isolated are not associated with PCOS, but in combination, they may be implicated in the etiology of the condition.


Subject(s)
Glutathione Transferase/genetics , Polycystic Ovary Syndrome , Case-Control Studies , Female , Genetic Predisposition to Disease , Genotype , Humans , Polycystic Ovary Syndrome/genetics , Risk Factors
6.
Rev Assoc Med Bras (1992) ; 66(10): 1396-1401, 2020 Oct.
Article in English | MEDLINE | ID: mdl-33174933

ABSTRACT

OBJECTIVE: The relationship between the clinicopathological and sociodemographics characteristics of acral melanomas diagnosed at BACKGROUND: This study aimed to investigate the frequency of VEGF gene insertion (I) / deletion (D) polymorphism (rs35569394) in patients with Polycystic Ovarian Syndrome (PCOS) and to compare with a control population to verify its association with the pathology. METHODS: 206 women participated in this study, 103 with PCOS (group of patients) and 103 without the disease (control group). After extraction of genomic DNA from the samples, molecular analysis was performed by Polymerase Chain Reaction (PCR) and electrophoresis in polycrylamide. Descriptive analysis, univariate analysis and logistic regression model were used. Results were presented in odds ratio (OR) and 95% confidence interval (95% CI), considering the significance of p <0.05. RESULTS: There were no statistical differences between patients and controls for allele frequencies (χ2 = 1.16, p = 0.56). The genotypic frequency distribution was in Hardy Weinberg equilibrium for the patients (χ2 = 2.42; p <0.05), but not for the control group (χ2 = 7.26; p <0.05). Regarding risk factors for the syndrome, a history of familial PCOS is more frequent among women with the syndrome. CONCLUSIONS: In the present study, there is no association between VEGF gene I / D polymorphism and PCOS.


Subject(s)
Polycystic Ovary Syndrome , Vascular Endothelial Growth Factor A/genetics , Alleles , Case-Control Studies , Female , Gene Frequency , Genetic Predisposition to Disease , Genotype , Humans , Polycystic Ovary Syndrome/genetics , Polymorphism, Single Nucleotide
7.
Rev. Assoc. Med. Bras. (1992, Impr.) ; 66(11): 1560-1565, Nov. 2020. tab, graf
Article in English | Sec. Est. Saúde SP, LILACS | ID: biblio-1143635

ABSTRACT

SUMMARY BACKGROUND: This study aimed to investigate the deletion polymorphisms of the genes of the glutathione S-transferase family GSTT1 and GSTM1 in patients with Polycystic Ovarian Syndrome (PCOS), comparing them with a control population. METHODS: Blood was collected from 219 women (110 with PCOS and 109 controls) and genomic DNA was extracted. For the analysis of polymorphisms, the technique used was multiplex PCR. In the statistical analysis, the chi-square test and multiple logistic regression were used. RESULTS: There is no association between the GSTM1 null and GSTT1 null genotypes with PCOS when analyzed separately (P = 0.616 and P = 0.188). The analysis of the combined genotypes showed differences between the groups (P < 0.05), evidencing that the genotypic combination GSTT1 positive and GSTM1 negative is more frequent among patients. In the multivariate analysis, smoking was more frequent in the control group (OR = 0.22; 95% CI - 0.87-0.57; P = 0.002) while the presence of a family history of PCOS (OR = 2, 96; 95% CI - 1.54-5.68; P = 0.001) was more frequent in women with PCOS. CONCLUSIONS: In the studied sample, the deletion polymorphisms of the GSTT1 and GSTM1 genes isolated are not associated with PCOS, but in combination, they may be implicated in the etiology of the condition.


RESUMO OBJETIVO: Este estudo teve como objetivo investigar os polimorfismos de deleção dos genes da família glutationa S-transferase GSTT1 e GSTM1 em pacientes com síndrome dos ovários policísticos (SOP), comparando-as com uma população controle. MÉTODOS: Foi colhido sangue de 219 mulheres (110 com SOP e 109 controles) e extraído o DNA genômico. Para análise dos polimorfismos, a técnica empregada foi PCR multiplex. Na análise estatística foi utilizado o teste do qui-quadrado e regressão logística múltipla. RESULTADOS: Não há associação dos genótipos GSTM1 nulo e GSTT1 nulo com SOP quando analisados isoladamente (p=0,616 e p=0,188). A análise dos genótipos combinados mostrou diferenças entre os grupos (p<0,05), evidenciando que a combinação genotípica GSTT1 positivo e GSTM1 negativo é mais frequente entre as pacientes. Na análise multivariada, o hábito tabagista foi mais frequente no grupo controle (OR=0,22; IC 95% - 0,87-0,57; p=0,002), enquanto que a presença do histórico de SOP familiar (OR=2,96; IC 95% - 1,54-5,68; p=0,001) foi mais frequente nas mulheres com SOP. CONCLUSÕES: Na casuística estudada, os polimorfismos de deleção dos genes GSTT1 e GSTM1 isolados não estão associados a SOP, mas em combinação podem estar implicados na etiologia da condição.


Subject(s)
Humans , Female , Polycystic Ovary Syndrome/genetics , Glutathione Transferase/genetics , Case-Control Studies , Risk Factors , Genetic Predisposition to Disease , Genotype
8.
Rev. Assoc. Med. Bras. (1992, Impr.) ; 66(10): 1396-1401, Oct. 2020. tab, graf
Article in English | Sec. Est. Saúde SP, LILACS | ID: biblio-1136166

ABSTRACT

SUMMARY OBJECTIVE: The relationship between the clinicopathological and sociodemographics characteristics of acral melanomas diagnosed at BACKGROUND: This study aimed to investigate the frequency of VEGF gene insertion (I) / deletion (D) polymorphism (rs35569394) in patients with Polycystic Ovarian Syndrome (PCOS) and to compare with a control population to verify its association with the pathology. METHODS: 206 women participated in this study, 103 with PCOS (group of patients) and 103 without the disease (control group). After extraction of genomic DNA from the samples, molecular analysis was performed by Polymerase Chain Reaction (PCR) and electrophoresis in polycrylamide. Descriptive analysis, univariate analysis and logistic regression model were used. Results were presented in odds ratio (OR) and 95% confidence interval (95% CI), considering the significance of p <0.05. RESULTS: There were no statistical differences between patients and controls for allele frequencies (χ2 = 1.16, p = 0.56). The genotypic frequency distribution was in Hardy Weinberg equilibrium for the patients (χ2 = 2.42; p <0.05), but not for the control group (χ2 = 7.26; p <0.05). Regarding risk factors for the syndrome, a history of familial PCOS is more frequent among women with the syndrome. CONCLUSIONS: In the present study, there is no association between VEGF gene I / D polymorphism and PCOS.


RESUMO OBJETIVO: Este estudo teve como objetivo investigar a frequência do polimorfismo de inserção (I)/ deleção (D) do gene VEGF (rs35569394) em pacientes com Síndrome dos Ovários Policísticos (SOP) e comparar com uma população controle para verificar sua associação com a patologia. MÉTODOS: Participaram desse estudo 206 mulheres sendo 103 com SOP (grupo de pacientes) e 103 sem a doença (grupo controle). Após extração do DNA genômico das amostras, a análise molecular foi realizada por Reação em Cadeia da Polimerase e eletroforese em gel de poliacrilamida. Utilizou-se análise descritiva, análise univariada e modelo de regressão logística. Os resultados foram apresentados em odds ratio (OR) e intervalo de confiança de 95% (IC-95%), considerando a significância de p < 0,05. RESULTADOS: Não houve diferenças estatísticas entre as pacientes e controles para as frequências alélicas (χ2 = 1,16, p = 0,56). A distribuição da frequência genotípica estava em equilíbrio de Hardy Weinberg para as pacientes (χ2= 2,42; p<0,12), mas não para o grupo controle (χ2= 7,26; p<0,05). Em relação aos fatores de risco para a síndrome, a história de SOP familiar é mais frequente entre as mulheres com a síndrome. CONCLUSÕES: Na casuística estudada, não há associação entre o polimorfismo I/D do gene da VEGF e a SOP.


Subject(s)
Humans , Female , Polycystic Ovary Syndrome/genetics , Vascular Endothelial Growth Factor A/genetics , Case-Control Studies , Genetic Predisposition to Disease , Polymorphism, Single Nucleotide , Alleles , Gene Frequency , Genotype
9.
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
10.
Arch Endocrinol Metab ; 63(5): 501-508, 2019.
Article in English | MEDLINE | ID: mdl-31482954

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)
Folic Acid/genetics , Polycystic Ovary Syndrome/genetics , Polymorphism, Genetic/genetics , Adult , Case-Control Studies , Female , Folic Acid/metabolism , Genetic Predisposition to Disease , Genotype , Humans , Polycystic Ovary Syndrome/metabolism , Polymorphism, Restriction Fragment Length , Polymorphism, Single Nucleotide , Risk Factors , Young Adult
11.
Gynecol Endocrinol ; 35(10): 847-850, 2019 Oct.
Article in English | MEDLINE | ID: mdl-31032699

ABSTRACT

This study evaluated the association of polymorphisms of VEGF (endothelial vascular growth factor) gene + 936C/T (rs3025039), 1154 G/A (rs 1570360) and -2578 C/A (rs 699947) in patients with polycystic ovary syndrome (PCOS) and to perform the haplotypes formed by the alleles in the Brazilian population. A total of 110 women without PCOS and 112 women with PCOS were included in the study. Genotyping analyses were performed using the PCR-RFLP assays (rs 3025039 and rs 699947) and by allelic discrimination using the real-time PCR technique (rs 1570360). In the univariate analysis, we observed a significant difference between the groups for the polymorphism rs 1570360 and this polymorphism presented statistical differences between the groups for the recessive model (p = .04). The frequency of the T-G-C haplotype showed a statistically significant difference between women with PCOS and controls (p = .05). The -2578 A/C polymorphism was more frequent in the control group, which may be associated with a protective characteristic for the PCOS manifestation. In the sample analysis, polymorphism rs 1570360 is associated with PCOS and the T-G-C haplotype could be associated with protective factors.


Subject(s)
Alleles , Haplotypes , Polycystic Ovary Syndrome/genetics , Polymorphism, Single Nucleotide , Vascular Endothelial Growth Factor A/genetics , Adult , Case-Control Studies , Female , Gene Frequency , Genetic Association Studies , Genetic Predisposition to Disease , Genotype , Humans
12.
Rev Assoc Med Bras (1992) ; 64(11): 1017-1022, 2018 Nov.
Article in English | MEDLINE | ID: mdl-30570054

ABSTRACT

PURPOSE: To investigate the contribution of the deletion polymorphism and insertion (rs1799752) of the angiotensin converting enzyme (ACE) gene in the aetiology of Polycystic Ovarian Syndrome (PCOS). METHODOLOGY: 97 women diagnosed with PCOS who received care at the Gynaecology and Obstetrics clinic of the Hospital das Clínicas of UFTM, participated in this study. The control group consisted of 94 women. All participants were submitted to the collection of 10 mL of whole blood and the genomic DNA was obtained by the saline extraction method. The genotyping of the samples was performed by means of the Polymerase Chain Reaction (PCR). The statistics analyses were performed by descriptive analysis, univariate analysis and logistic regression model. 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: There were no statistical differences between patients and controls for the genotypic (χ2 = 1.52, p = 0.47) and allelic frequencies (χ2 = 0.21, p = 0.76). The distribution of the genotypic frequency is not in HWE for patients (χ2 = 18.80, p <0.05) and for controls (χ2 = 6.85, p <0.05). In relation to the risk factors for the syndrome, the history of familial PCOS is more frequent between women with the syndrome. CONCLUSION: In the study population, there was no association between I/D polymorphism of the ACE gene and PCOS.


Subject(s)
Peptidyl-Dipeptidase A/genetics , Polycystic Ovary Syndrome/genetics , Polymorphism, Genetic , Case-Control Studies , Female , Gene Frequency , Genetic Predisposition to Disease/genetics , Genotype , Humans , Polymerase Chain Reaction
13.
Rev. Assoc. Med. Bras. (1992, Impr.) ; 64(11): 1017-1022, Nov. 2018. tab, graf
Article in English | LILACS | ID: biblio-976798

ABSTRACT

SUMMARY PURPOSE: To investigate the contribution of the deletion polymorphism and insertion (rs1799752) of the angiotensin converting enzyme (ACE) gene in the aetiology of Polycystic Ovarian Syndrome (PCOS). METHODOLOGY: 97 women diagnosed with PCOS who received care at the Gynaecology and Obstetrics clinic of the Hospital das Clínicas of UFTM, participated in this study. The control group consisted of 94 women. All participants were submitted to the collection of 10 mL of whole blood and the genomic DNA was obtained by the saline extraction method. The genotyping of the samples was performed by means of the Polymerase Chain Reaction (PCR). The statistics analyses were performed by descriptive analysis, univariate analysis and logistic regression model. 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: There were no statistical differences between patients and controls for the genotypic (χ2 = 1.52, p = 0.47) and allelic frequencies (χ2 = 0.21, p = 0.76). The distribution of the genotypic frequency is not in HWE for patients (χ2 = 18.80, p <0.05) and for controls (χ2 = 6.85, p <0.05). In relation to the risk factors for the syndrome, the history of familial PCOS is more frequent between women with the syndrome. CONCLUSION: In the study population, there was no association between I/D polymorphism of the ACE gene and PCOS.


RESUMO OBJETIVO: Investigar a contribuição do polimorfismo de deleção e inserção (rs1799752) do gene enzima conversora de angiotensina (ECA) na etiologia da Síndrome dos Ovários Policísticos (SOP). MÉTODOS: Participaram deste estudo 97 mulheres diagnosticadas com SOP, atendidas no ambulatório de Ginecologia e Obstetrícia do Hospital de Clínicas da UFTM. O grupo controle foi constituído por 94 mulheres. Todas as participantes foram submetidas à coleta de 10 mL de sangue total e o DNA genômico foi obtido pelo método de extração salina. A genotipagem das amostras foi realizada por meio da Reação da Cadeia da Polimerase (PCR). A análise estatística foi realizada por análises descritivas, análise univariada e modelo de regressão logística. Os resultados foram apresentados em odds ratio (OR) e intervalo de confiança de 95% (IC - 95%). Foi considerado o nível de significância de 5% (p≤0,05). RESULTADOS: Não foram observadas diferenças estatísticas entre pacientes e controles para as frequências genotípicas (χ2=1,52; p=0,47) e alélicas (χ2=0,21; p=0,76). A distribuição da frequência genotípica não está em equilíbrio de HWE para as pacientes (χ2=18,80; p<0,05) e para controles (χ2=6,85; p<0,05). Em relação aos fatores de risco para a síndrome, a história familial de SOP é mais frequente entre as pacientes. CONCLUSÃO: Na casuística estudada não há associação do polimorfismo I/D do gene ACE e SOP.


Subject(s)
Humans , Female , Polycystic Ovary Syndrome/genetics , Polymorphism, Genetic , Peptidyl-Dipeptidase A/genetics , Case-Control Studies , Polymerase Chain Reaction , Genetic Predisposition to Disease/genetics , Gene Frequency , Genotype
14.
Article in English | LILACS | ID: biblio-963615

ABSTRACT

Endometriosis is a chronic gynecological disease that displays some features similar to malignancy, such as local invasion, aggressive spread to distant organs and angiogenesis. Polymorphisms of the ACE gene have been linked with some vascular disease. To determine the frequency of the ACE I/D polymorphism in Brazilian patients with endometriosis compared to controls. This case-control study included a total of 134 women (49 endometriosis patients and 85 controls) who had undergone a laparoscopy or laparotomy. Molecular analysis was performed by polymerase chain reaction (PCR). For the statistical analysis, the chi-square and multiple logistic regression tests were used. The I/D ACE genotype frequencies in cases and controls were, respectively: II 16.3% and 16.5%; ID 24.5% and 20%; DD 59.2% and 63.5%. There was no statistically significant difference between cases and controls, either in the genotype frequencies (χ2 = 0.385; p = 0.825) or in the allele frequencies (χ2 = 0.098; p = 0.75) of the ACE I/D polymorphism. However, the genotype distribution was not consistent with the Hardy-Weinberg equilibrium, either in patients (χ2 = 7.84; p = 0.005) or in controls (χ2 = 20.09; p <0.0001). Multiple logistic regression analysis has not shown any differences amongst groups for the polymorphism studied [(OR 1.51; CI 95% 0.52- 4.41); p=0.4523]. Despite of the small sample size, the present study suggests that I/D ACE polymorphism is not related with endometriosis in brazilian patients.(AU)


A endometriose é uma doença ginecológica crônica que apresenta algumas características semelhantes à malignidade, tais como invasão local, disseminação para órgãos distantes e angiogênese. Polimorfismos no gene ACE têm sido relacionados com algumas doenças vasculares. Determinar a frequência do polimorfismo ACE I/D em pacientes brasileiros com endometriose em comparação aos controles. Estudo caso-controle que incluiu um total de 134 mulheres (49 pacientes com endometriose e 85 controles) que se submeteram a uma laparoscopia ou laparotomia. A análise molecular foi realizada por Reação em Cadeia da Polimerase (PCR). A análise estatística utilizou os testes de qui-quadrado e regressão logística. As frequências genotípicas ACE I/D em casos e controles foram, respectivamente: II 16,3% e 16,5%; ID 24,5% e 20%; DD 59,2% e 63,5%. Não houve diferença estatisticamente significativa entre os casos e controles, tanto nas frequências genotípicas (χ2 = 0,385; p = 0,825) ou nas frequências alélicas (χ2 = 0,098; p = 0,75) do polimorfismo ACE I/D. Entretanto, a distribuição genotípica não foi consistente com o equilíbrio de Hardy-Weinberg, tanto nos pacientes (χ2 = 7,84; p = 0,005) ou nos controles (χ2 = 20,09; p <0,0001). A análise de regressão logística não mostrou qualquer diferença entre os grupos para o polimorfismo estudado [(OR 1,51; CI 95% 0,52-4,41); p=0,4523]. Apesar do pequeno número de amostras, o presente estudo mostra que em pacientes brasileiras o polimorfismo ACE I/D não está relacionado com endometriose.(AU)


Subject(s)
Humans , Female , Polymorphism, Genetic , Peptidyl-Dipeptidase A/genetics , Endometriosis/physiopathology , Brazil , Polymerase Chain Reaction/methods , Genotyping Techniques/methods
15.
Rev. méd. Minas Gerais ; 11(3): 139-143, jul.-set. 2001. tab
Article in Portuguese | LILACS | ID: lil-587225

ABSTRACT

A atenção à saúde no pré-natal é fator redutor dos parâmetros da morbimortalidade do binômio materno-fetal. No entanto, alguns menosprezam esta assertiva atribuindo às baixas condições socioeconômicas fator mais relevante. No intuito de dirimir esta discrepância, foram entrevistadas 596 puérperas atendidas em hospital universitário. As pacientes responderam questionário sobre dados reprodutivos, demográficos e aspectos relacionados à assistência pré-natal. A seguir, foram divididas em dois grupos (com e sem pré- natal), sendo comparados o peso, índices de Apgar, complicações obstétricas e neo-natais. Observou-se que 40% das gestantes não realizaram pré-natal e que apenas a parte técnica foi realizada pela maioria. Poucas foram orientadas quanto aos cuidados higiênicos, nutricionais, parto, contracepção e lactação. Os dados comparáveis mostraram-se alterados no grupo que não fez pré-natal, sendo o óbito fetal o elemento de maior relevância. Concluiu-se que as gestantes em nosso meio têm ainda pouca preparação para a gravidez e para o parto e que estratégias outras, que não as atuais, necessitam ser implementadas.


The attention to prenatal care is a reductive factor on the mortality of both mother and newborn. However, some authors don't agree to this statement, and the socioeconomic status are considered to be more relevant. In order to clarify these doubts, 596 pregnant women were interviewed in their first day after delivery in an university hospital. The patients responded to a questionnaire about their reproductive and demographic conditions and aspects related to their prenatal care. After, the patients were divided into two groups (with and without prenatal care). The newborn weight, Apgar index, the obstetric and newborn complications were, then, compared. It was observed that 40% of the patients did not go to prenatal office and that the technical part were well done by the majority. However only a small number of them received orientations on hygiene and nutritional cares, types of deliveries, contraception and lactation. The comparative data showed alterations in the non-prenatal group. The newborn deaths were the most relevam ones. It could be concluded that the pregnant women have a poor preparation to the pregnancy and to delivery itself among us, and that other strategies, different from the actual ones, should be performed.


Subject(s)
Humans , Female , Adolescent , Adult , Prenatal Care , Pregnant Women , Hospitals, University , Perinatal Mortality , Qualitative Research , Surveys and Questionnaires
16.
Reprod. clim ; 15(4): 223-7, out.-dez. 2000. tab, graf
Article in Portuguese | LILACS | ID: lil-289130

ABSTRACT

A melatonina, (MLT) um hormônio produzido pela pineal, em sua síntese obedecida por ritmo circadiano que é coordenado pelo sistema retino-hipotálamo-pineal, sendo ativado pela escuridäo. Estudos recentes relacionam a pinealectomia cirúrgica à induçäo de estado pré-diabético e simulaçäo de síndrome dos ovários policísticos. Aferir alteraçöes no perfil bioquímico do colesterol, triglicérides, glicose e progesterona em ratas expostas à luz contínua (LC). Foram utilizadas 42 ratas mantidas em gaiolas individuais e divididas em 3 grupos. Grupo de Estudo - GE (n=22) animais expostos a LC por 8 meses. No 4§ mês realizou-se Ooforectomia à direita e iniciou-se a administraçäo de MLT (200 mg IM) diariamente por 4 meses. Grupo controle I - (GCI) (n=10) animais expostos à LC por 8 meses. Grupo Controle II - GCII (n=10) animais expostos a LC por 8 meses, no 4§ mês realizou-se Ooforectomia à direita e administrou-se etanol por 4 meses. Ao final do experimento foi realizada Ooforectomia à esquerda nos 3 grupos. Coletou-se 1 ml de sangue no início, no 4§ e 8§ mês de experimento para dosagem bioquímica. A análise estatística foi realizada segundo a análise de variância por postos de Friedmann e teste de Mann Whitney. Näo observou-se relaçäo ou variaçäo entre os valores bioquímicos estudados. Os valores de progesterona sugeriram a presença de estado anovulatório crônico nos animais estudados. Em ratas, os níveis de glicemia, colesterol e triglicérides näo se alteraram frente à pinealectomia física. Estes resultados podem ter sofrido forte influência pelo estresse induzido pela luz. Outros estudos precisam confirmar a associaçäo de melatonina, diabete mellitus e síndrome dos ovários policísticos


Subject(s)
Animals , Female , Rats , Blood Glucose/analysis , Blood Glucose/physiology , Cholesterol/analysis , Cholesterol/physiology , Glycerides/analysis , Glycerides/physiology , Light , Melatonin/adverse effects , Melatonin/pharmacology , Pineal Gland/surgery , Triglycerides/analysis , Triglycerides/physiology , Insulin/administration & dosage , Insulin/biosynthesis , Insulin/physiology
17.
Rev. bras. ginecol. obstet ; 22(9): 585-591, out. 2000. tab, graf
Article in Portuguese | LILACS | ID: lil-331596

ABSTRACT

Objetivos: testar a atividade supra-renal por meio de um estímulo potente sobre sua camada reticular com o intuito de aferir a atividade da 3b-hidroxiesteróide desidrogenase (3β-HSD) e da 21-hidroxilase (21 OH). Métodos: concentrações plasmáticas de 17αOH-pregnenolona, 17αOH-progesterona, cortisol, progesterona, androstenediona, deidroepiandrosterona (DHEA), sulfato de deidroepiandrosterona (SDHEA) e testosterona livre foram determinadas em 39 mulheres, sendo 13 normais (2 utilizadas como piloto) e 26 com hirsutismo idiopático nos tempos 0, 12 e 24 horas após injeção de ACTH-depot. Resultados: entre as mulheres hirsutas, identificamos respostas que permitem indicar qualquer bloqueio nas diversas etapas da esteroidogênese, conduzindo ao diagnóstico de função supra-renal diminuída em graus leve / moderado. As concentrações de 17αOH-pregnenolona partiram de 2,0 para 24,6 ng/mL, as de cortisol aumentaram de 2,1 para 45,3 e 38,4 ug/dL, as de 17αOH-progesterona sofreram incremento de 50,7 para 346 e 218 ng/dL e os níveis de progesterona se elevaram de 0,3 para 4,4 e 2,2 ng/mL. Entre os hormônios da camada reticular verificamos aumento do SDHEA de 274,7 para 495,5 e 505,8 ng/dL, os de androstenediona de 1,1 para 4,0 e 4,5 ng/mL, os de testosterona livre de 1,3 para 1,8 e 2,7 pg/mL e os de DHEA de 2,4 para 4,7 e 8,5 ng/mL. Na avaliação individualizada uma paciente revelou defeito de 3β-HSD e duas outras, provável defeito de 21 OH. Conclusões: estes achados sugerem que o teste com ACTH-depot pode ser utilizado para excluir a supra-renal como possível fonte hiperandrogênica em mulheres com hirsutismo, com ou sem anovulação crônica


Subject(s)
Humans , Female , Adolescent , Adult , Adrenal Hyperplasia, Congenital , Hirsutism
18.
Rev. bras. ginecol. obstet ; 22(10): 653-656, nov.-dez. 2000. ilus
Article in Portuguese | LILACS | ID: lil-329027

ABSTRACT

A apendicite crônica pode simular diversas situações clínicas, dificultando a conduta clínica. Descrevemos neste trabalho um caso de uma menina de 9 anos com dor abdominal há 13 meses, sendo visualizada massa expansiva no baixo ventre após exames de ultra-som e tomografia computadorizada abdominal e laparoscopia diagnóstica. Houve enorme dificuldade diagnóstica, pois o quadro clínico, laboratorial e imaginológico não foi conclusivo, levando a várias hipóteses diagnósticas. O diagnóstico definitivo de plastrão apendicular ocorreu somente após laparotomia exploradora. Discutem-se neste estudo vários diagnósticos diferenciais quando da presença de massa formada por plastrão apendicular com enfoque nas malformações ginecológicas, endometriose, neoplasias e pseudotumores.


Subject(s)
Humans , Female , Child , Appendicitis
19.
Reprod. clim ; 15(1): 35-9, jan.-mar. 2000. tab
Article in Portuguese | LILACS | ID: lil-289102

ABSTRACT

A terapia de reposiçäo hormonal vem sendo aplicada de maneira universal porém pouco uniforme nos últimos 15 anos e muitas säo as dificuldades para alcançar um grau de adesäo aceitável. Destacam-se como fatores influentes os sócio-econômico-demográficos, a relaçäo médico-paciente e os efeitos colaterais. Tendo em vista os poucos dados existentes em nosso meio, este estudo objetivou avaliar a adesäo à terapia de reposiçäo hormonal e ao seguimento climatérico em um grupo de mulheres na pós menopausa. 323 pacientes na pós menopausa foram estudadas, sendo que 237 receberam algum tipo de reposiçäo hormonal (esquemas seqüenciais e contínuos: oral, transdérmicos ou vaginal) e 86 pacientes foram oferecidas medidas de suporte. Avaliaram-se os principais sintomas, a taxa de adesäo e os efeitos colaterais ao longo de 5 anos de seguimento. Comparou-se a adesäo ao tratamento entre os grupos estudados e naquele que utilizou reposiçäo hormonal comparou-se diferentes tipos de esquemas entre si. Houve queda progressiva e continuada da taxa de adesäo ao tratamento proposto, sendo observado que apenas 6 por cento das pacientes continuaram o seguimento após o período de estudo. Näo houve diferenças entre os grupos que utilizaram reposiçäo hormonal com o que näo utilizou. O seguimento a pacientes climatéricas sofre inúmeras influências que geralmente conduzem ao abandono do tratamento, sobressaindo neste estudo as dificuldades sócio-econômicas. Várias medidas e estratégias clínicas podem conduzir ao aumento da adesäo e menores índices de abandono.


Subject(s)
Humans , Female , Patient Acceptance of Health Care/statistics & numerical data , Climacteric/drug effects , Patient Dropouts/statistics & numerical data , Physician-Patient Relations , Postmenopause , Socioeconomic Factors , Estrogen Replacement Therapy/adverse effects , Estrogen Replacement Therapy/statistics & numerical data , Hormone Replacement Therapy/adverse effects , Hormone Replacement Therapy/statistics & numerical data
20.
Radiol. bras ; 31(3): 161-3, jun. 1998. ilus
Article in Portuguese | LILACS | ID: lil-267853

ABSTRACT

Resumo: Os autores relatam um caso grave de tumor desmóide abdominal com comprometimento pélvico importante e comentam sobre as dificuldades imagenológicas que provém deste diagnóstico. Säo feitos comentários sobre a abrangência clínica dessa doença e discutidos aspectos epidemológicos, diagnósticos e terapêuticos provenientes dos dados clínicos relatados no caso apresentado.


Subject(s)
Humans , Female , Adult , Diagnostic Imaging , Fibromatosis, Abdominal , Fibromatosis, Abdominal , Fibromatosis, Abdominal/diagnosis
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