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1.
In Vivo ; 29(2): 243-6, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25792652

RESUMO

AIM: This study aimed to analyze the relation between uterine leiomyoma (ULM) patients and p.Q192R polymorphism. MATERIALS AND METHODS: ULM patients (n=76) and healthy women (n=103) were recruited from the Yeditepe University, Department of Gynecology and Obstetrics. The genotype and allele distribution of p.Q192R was analyzed by polymerase chain reaction and restriction fragment length polymorphism methods. Genotype and allele frequencies between study groups were calculated by the chi-square (χ(2)) and Fischer's exact test. RESULTS: The frequency of the B allele was lower in patients (p<0.001) and the AB genotype showed a decreased risk for ULM development (p<0.001). The variation was unrelated to ULM size and number. There was no significant difference between p.Q192R genotype frequencies and fibroid size and number. CONCLUSION: The heterogeneous AB genotype of PON1 p.Q192R variation could be recognized as a low-risk parameter for the development of ULM in Turkish women.


Assuntos
Alelos , Arildialquilfosfatase/genética , Predisposição Genética para Doença , Leiomioma/genética , Polimorfismo de Nucleotídeo Único , Adulto , Substituição de Aminoácidos , Estudos de Casos e Controles , Feminino , Frequência do Gene , Estudos de Associação Genética , Genótipo , Humanos , Leiomioma/patologia , Pessoa de Meia-Idade , Turquia
2.
Asian Pac J Cancer Prev ; 16(3): 1123-7, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25735342

RESUMO

Uterine leiomyomas (ULM), are benign tumors of the smooth muscle cells of the myometrium. They represent a common health problem and are estimated to be present in 30-70% of clinically reproductive women. Abnormal angiogenesis and vascular-related growth factors have been suggested to be associated with ULM growth. The angiotensin-I converting enzyme (ACE) is related with several tumors. The aim of this study was to identify possible correlation between ULM and the ACE I/D polymorphism, to evaluate whether the ACE I/D polymorphism could be a marker for early diagnosis and prognosis. ACE I/D was amplified with specific primer sets recognizing genomic DNA from ULM (n=72) and control (n=83) volunteers and amplicons were separated on agarose gels. The observed genotype frequencies were in agreement with Hardy-Weinberg equilibrium (χ2=2.162, p=0.339). There was no association between allele frequencies and study groups (χ2=0.623; p=0.430 for ACE I allele, χ2=0.995; p=0.339 for ACE D allele). In addition, there were no significant differences between ACE I/D polymorphism genotype frequencies and ULM range in size and number (χ2=1.760; p=0.415 for fibroid size, χ2=0.342; p=0.843 for fibroid number). We conclude that the ACE gene I/D polymorphism is not related with the size or number of ULM fibroids in Turkish women. Thus it cannot be regarded as an early diagnostic parameter nor as a risk estimate for ULM predisposition.


Assuntos
Leiomioma/genética , Leiomioma/patologia , Peptidil Dipeptidase A/genética , Polimorfismo Genético/genética , Adulto , Estudos de Casos e Controles , Feminino , Seguimentos , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Voluntários Saudáveis , Humanos , Leiomioma/enzimologia , Masculino , Estadiamento de Neoplasias , Reação em Cadeia da Polimerase , Prognóstico , Fatores de Risco , Turquia
3.
In Vivo ; 29(1): 51-4, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25600530

RESUMO

BACKGROUND/AIM: Reactive oxygen species (ROS) are involved in the development of certain neuropsychiatric disorders. Paraoxonase 1 (PON1) activity has been suggested to be adversely related to oxidative stress in plasma. The purpose of the present study was to demonstrate the relationship between serum PON1 activity and PON1 192 polymorphism in panic disorder (PD). MATERIALS AND METHODS: Fourty-two patients with PD and 46 healthy controls were included in this study. PON1 192 genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. PON1 activity was measured by spectrophotometric assay of p-nitrophenol production following the addition of paraoxon. RESULTS: PON1 192 AA genotype and A allele in PD were significantly higher than in the control group, whereas the B allele was found to be significantly higher in the control group. Patients with panic disorder have lower PON1 activity than the control group. CONCLUSION: The PON1 192 AA genotype may increase the risk of PD depending on lipid peroxidation.


Assuntos
Arildialquilfosfatase/sangue , Transtorno de Pânico/sangue , Transtorno de Pânico/genética , Polimorfismo Genético , Adulto , Alelos , Arildialquilfosfatase/genética , Estudos de Casos e Controles , Ativação Enzimática , Feminino , Frequência do Gene , Genótipo , Humanos , Peroxidação de Lipídeos , Masculino , Adulto Jovem
4.
In Vivo ; 28(5): 885-9, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25189904

RESUMO

BACKGROUND: The angiotensin converting enzyme (ACE) gene, which has been found to have an insertion and deletion polymorphism (I/D), is of increasing interest in etiology and treatment of various psychiatric disorders such as panic disorder. The present study aimed to investigate the relationship between ACE polymorphism and panic disorder. MATERIALS AND METHODS: In this study, 43 patients diagnosed with panic disorder at the Erenköy Mental and Neurological Diseases Training and Research Hospital, Istanbul and 41 healthy controls were enrolled. The ACE gene insertion/deletion polymorphism of exon 16 was evaluated using the polymerase chain reaction method. RESULTS: There was a significant association between I/D genotype and panic disorder (p=0.003). However, the frequency of the I allele was found to be significantly higher in patients compared to controls (p=0.002). In addition, we recognized a significant association between I/D polymorphism and respiratory-type panic disorder in patients. Carriers of the D allele also had an increased risk of respiratory type panic disorder patients (p=0.034). Moreover, the result of Spearman correlation analysis showed an association with ACE D allele and severity of panic disorder (p<0.001). CONCLUSION: We suggest that the I/D polymorphism of the ACE gene is associated with panic disorder and particularly respiratory-type panic disorder in patients. The I/D polymorphism of the ACE gene seems to influence therapeutic outcome in patients suffering from panic disorder. Our results indicate that ACE D allele is associated with the severity of panic disorder.


Assuntos
Predisposição Genética para Doença , Transtorno de Pânico/genética , Peptidil Dipeptidase A/genética , Polimorfismo Genético , Idoso , Alelos , Estudos de Casos e Controles , Feminino , Frequência do Gene , Genótipo , Humanos , Mutação INDEL , Masculino , Pessoa de Meia-Idade , Transtorno de Pânico/diagnóstico , Índice de Gravidade de Doença
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