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1.
Genet Mol Res ; 15(3)2016 Aug 19.
Artigo em Inglês | MEDLINE | ID: mdl-27706591

RESUMO

Prostate cancer (PCa) is the most common type of neoplasm in European males. Genetic and epigenetic factors contribute to PCa development and progression. In this study, we aimed to assess the relationship between PCa and polymorphisms in the genes encoding endothelial nitric oxide synthase (eNOS), catalase (CAT), and myeloperoxidase (MPO). In total, 193 patients were included in the study. Patients were divided into three groups: PCa (78), benign prostate hyperplasia (40), and control males (75). The parameters assessed included body mass index (BMI), smoking habits, presence of prostatism, prostate-specific antigen (PSA) levels, Gleason scores of prostate specimens, as well as polymorphisms in eNOS-G894T, CAT- 262T, and MPO G-463T genes. BMI and smoking status of controls and patient groups showed no significant difference. CAT-262T gene polymorphism was found to be homozygous in 35.4% of PCa patients, which was 4.02-fold that in the controls (P = 0.006). There was no statistically significant difference in eNOS-G894T and MPO G-463T gene polymorphisms between any of the groups. In conclusion, we found catalase levels to be associated with PCa diagnosis and PSA value. We did not find any significant differences between groups for other polymorphisms, but we believe that further studies with a large sample size may be needed before drawing definite conclusions.


Assuntos
Catalase/genética , Óxido Nítrico Sintase Tipo III/genética , Peroxidase/genética , Neoplasias da Próstata/genética , Idoso , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Gradação de Tumores , Polimorfismo de Nucleotídeo Único , Neoplasias da Próstata/patologia , Análise de Sequência de DNA , Turquia
2.
Genet Mol Res ; 11(2): 1185-94, 2012 May 07.
Artigo em Inglês | MEDLINE | ID: mdl-22614345

RESUMO

Familial Mediterranean fever is a recessive autoinflammatory disease that is frequent in Armenians, Jews, Arabs, and Turks. The MEFV gene is responsible for this disease. We looked for MEFV gene variations (polymorphism and mutations) in a population that resides in Central Anatolia, Turkey. DNA was extracted from peripheral blood leukocytes of 802 familial Mediterranean fever patients. The DNA sequence data were examined for approximately 150 different mutations and polymorphisms, including single nucleotide polymorphisms in different exons of the MEFV gene. The male:female ratio of these patients was 1.44:1. Mutations were detected in 48.1% of the patients; 7.5% were homozygous, 11.1% were compound heterozygous and 31.5% had only one identifiable mutant allele. No mutations were detected in 51.9% of the patients. The main clinical characteristics of the patients were: abdominal pain in 20.6%, arthritis in 22.9% and amyloidosis in 4.6%. Sixty-six percent of patients had a family history of familial Mediterranean fever; 19.4% of the patients were found to have parental consanguinity. We conclude that the genetics of familial Mediterranean fever is more complex than has previously been reported; heterozygous patients presenting a severe phenotype should be further analyzed for less common secondary MEFV mutations, using gene sequencing.


Assuntos
Proteínas do Citoesqueleto/genética , Febre Familiar do Mediterrâneo/genética , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Febre Familiar do Mediterrâneo/patologia , Feminino , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Pirina , Turquia
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