RESUMEN
OBJECTIVE: In this study, the relationship between osteoporotic vertebral fractures and 9041 Guanine/Adenine and 3673 Guanine/Adenine polymorphisms related to the vitamin K epoxide reductase complex subunit-1 (VKORC1) gene in postmenopausal women with osteoporosis was investigated. METHOD: DNA was isolated from blood samples collected from 150 women with postmenopausal osteoporosis. Genotyping of the two polymorphic regions (9041 Guanine/Adenine and 3673 Guanine/Adenine) in VKORC1 was performed using polymerase chain reaction-restriction fragment length polymorphism analysis. The presence of radiographic fractures among the 150 patients was ascertained by using the Genant method. RESULT: At least one fracture was detected in 98 patients, and no fracture was observed in 52 patients on radiological images. We found no association between the 9041 Guanine/Adenine (p=0.283) and 3673 Guanine/Adenine (p=0.232) polymorphisms of the VKORC1 gene and the development of secondary postosteoporotic fractures in our study. CONCLUSION: There was no relationship between osteoporotic vertebral fracture and VKORC1 gene polymorphism in a postmenopausal Turkish population.
Asunto(s)
Humanos , Femenino , Persona de Mediana Edad , Anciano , Polimorfismo Genético/genética , Osteoporosis Posmenopáusica/genética , Fracturas de la Columna Vertebral/genética , Fracturas Osteoporóticas/genética , Vitamina K Epóxido Reductasas/genética , Turquía , Densidad Ósea , Proyectos Piloto , Estudios Retrospectivos , Estudios de Asociación Genética , Frecuencia de los Genes/genéticaRESUMEN
OBJECTIVE: The development of osteoporosis is associated with several risk factors, such as genetic structures that affect bone turnover and bone mass. The impact of genetic structures on osteoporosis is not known. Plasminogen activator inhibitor type-1 regulates the bone matrix and bone balance. This study assessed the correlation between plasminogen activator inhibitor type-1 gene 4G/5G polymorphisms and osteoporosis in a population of Turkish women. METHODS: A total of 195 postmenopausal female patients who were diagnosed with osteoporosis (Group I) based on bone mineral density measurements via dual-energy x-ray absorptiometry and 90 females with no osteoporosis (Group II) were included in this study. Correlations between PAI-1 gene 4G/5G polymorphisms and osteoporosis were investigated through the identification of PAI-1 gene 4G/5G polymorphism genotypes using the polymerase chain reaction. RESULTS: No significant differences in the genotype and allele frequency of 4G/5G plasminogen activator inhibitor type-1 polymorphisms were observed between the two groups, and both groups exhibited the most frequently observed 4G5G genotype. CONCLUSION: No correlation between the development of osteoporosis in the female Turkish population and 4G/5G plasminogen activator inhibitor type-1 gene polymorphisms was observed.
Asunto(s)
Anciano , Femenino , Humanos , Persona de Mediana Edad , Osteoporosis Posmenopáusica/genética , Inhibidor 1 de Activador Plasminogénico/genética , Polimorfismo Genético/genética , Absorciometría de Fotón , Densidad Ósea/fisiología , Estudios de Casos y Controles , Frecuencia de los Genes , Osteoporosis Posmenopáusica/sangre , Reacción en Cadena de la Polimerasa , Estadísticas no Paramétricas , TurquíaRESUMEN
O acidente vascular cerebral (AVC) é doença multifatorial em que fatores genéticos desempenham papel importante. Este estudo foi desenvolvido para verificar o polimorfismo do gene da enzima conversora da angiotensina (ECA) em pacientes turcos com AVC agudo e estabelecer se existe associação do gene I/D da ECA com parâmetros clínicos. O estudo foi realizado com 185 pacientes e 50 controles. A associação entre a distribuição alélica da inserção / deleção (I/D) do polimorfismo do gene da ECA foi estudada pela reação em cadeia da polimerase. A distribuição dos genótipos I/D do gene da ECA e suas freqüências não apresentaram significância estatística quando comparados os pacientes e controles. As freqüências dos alelos D foram 57,8% nos pacientes versus 53% nos controles e dos alelos I 42,2% versus 47% respectivamente. Antecedentes de hipertensão, AVC, doença renal, doenças cardíacas, idade, gênero, pressão arterial sistólica e diastólica e níveis de creatinina foram significantemente elevados no grupo dos pacientes. No entanto estes resultados quando comparados com a atividade e o polimorfismo do gene da ECA não apresentaram diferenças estatísticas entre o grupo de pacientes e controles. Nossos resultados sugerem que o polimorfismo do gene da ECA não é associado com a patogênese do AVC em paciente turcos.