RESUMEN
BACKGROUND: Glutathione S-transferases (GSTs) are the main phase II enzymes involved in cellular detoxification. Through phase I and phase II detoxification reactions, the cell is able to detoxify endogenous and exogenous toxic compounds. AIMS: This study focused attention on the GSTT2B copy number variant (CNV) in order to explore its involvement in the genetic pre-disposition to asthma, Alzheimer's disease (AD), allergic rhinitis (AR), essential hypertension (EH), hypothyroidism and recurrent miscarriage (RM). METHODS: The study population consists of 1225 individuals divided into six case-control groups. The genotyping of the GSTT2B CNV was performed by using a duplex-PCR. Odds Ratios (ORs) were calculated, adjusting for the confounding variables, to estimate the association between GSTT2B CNV and the disease status. RESULTS: The χ(2)-test and ORs did not show any association between this genetic marker and pathological phenotypes. CONCLUSION: The data highlights that GSTT2B CNV is not associated with the investigated complex diseases in Italian patients. However, further investigations are necessary to replicate these findings in larger sample sizes and to explore other health-related phenotypes.
Asunto(s)
Variaciones en el Número de Copia de ADN/genética , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Glutatión Transferasa/genética , Teorema de Bayes , Estudios de Casos y Controles , Intervalos de Confianza , Femenino , Frecuencia de los Genes/genética , Humanos , Masculino , Persona de Mediana Edad , Oportunidad Relativa , Factores de RiesgoAsunto(s)
Asma/enzimología , Asma/genética , Predisposición Genética a la Enfermedad/genética , Glutatión Peroxidasa/genética , Polimorfismo de Nucleótido Simple , Biomarcadores/metabolismo , Estudios de Casos y Controles , Femenino , Humanos , Italia , Masculino , Persona de Mediana Edad , Glutatión Peroxidasa GPX1RESUMEN
OBJECTIVE: To explore the role of the GSTO1 gene in the pathogenesis of recurrent miscarriage (RM). DESIGN: Genetic association study. SETTING: Rome, Italy. PATIENT(S): 123 women with RM and 130 women without pregnancy complications. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Genotyping of two single nucleotide polymorphisms (A140D and E208K) and a 3-bp deletion (E155del) of the GSTO1 gene. RESULT(S): We found a statistically significant association between GSTO1*E208K variants and RM risk. Specifically, we identified this uncommon genetic variant only in women with RM. None of the women with physiologic pregnancies were carriers of K208 allele. CONCLUSION(S): GSTO1 has a role in detoxification metabolism, and we hypothesize that a functional variation of GSTO1 is a RM risk factor that interacts with environmental conditions.