RESUMEN
Spermatozoa and neurones share similar membrane characteristics and features. Associations of multiple polymorphisms traditionally related to neurotransmission were investigated. Infertile men were grouped into controls with normospermia (n = 182) and idiopathic infertile men with asthenozoospermia (n = 103), and analysed as a case-control study and as a quantitative association of each genotype. Ten neurotransmission-associated genetic variants were mapped by SNP analysis using quantitative polymerase chain reaction with TaqMan probes. Men with HTR2A rs6313 had a higher risk of asthenozoospermia (OR = 2.14; P = 0.04). MAOA rs3788862 G carriers displayed an increased risk of asthenozoospermia (OR = 2.29; P = 0.02). The SLC18A1 rs1390938 G allele was more frequent among such cases (0.75 versus 0.87; P < 0.01 and P < 0.01 for Armitage trend test); for SLC18A1 rs2270641 P = 0.02 (case-control frequency) and P = 0.01 (Armitage trend test). MAOA rs3788862 was correlated with sperm motility (Spearman ρ = 0.14; P = 0.02); SLC18A1 rs1390938 was correlated with sperm count and motility (Spearman ρ = 0.20; P < 0.01). Gene polymorphisms of HTR2A, MAOA and SLC18A1, related to neurotransmission, are individually associated with asthenozoospermia through variation in sperm count and motility, without detectable allelic or genotype interaction.
Asunto(s)
Astenozoospermia/genética , Monoaminooxidasa/genética , Receptor de Serotonina 5-HT2A/genética , Recuento de Espermatozoides , Motilidad Espermática/genética , Proteínas de Transporte Vesicular de Monoaminas/genética , Estudios de Casos y Controles , Genotipo , Humanos , Masculino , Monoaminooxidasa/fisiología , Polimorfismo Genético , Receptor de Serotonina 5-HT2A/fisiología , Proteínas de Transporte Vesicular de Monoaminas/fisiologíaRESUMEN
BACKGROUND AND OBJECTIVE: Cardiovascular disease is the leading cause of morbimortality in industrialized countries. Quantification of coronary artery calcium (CAC) has been shown to have an independent and incremental prognostic value over traditional risk factors for the prediction of mortality and cardiovascular events. The aim of our study was to determine the possible relationship between CAC and cystatin C (CTC). PATIENTS AND METHOD: We included 104 patients with stable chest pain, free of cardiovascular disease and nephropathy, with intermediate cardiovascular risk. Both CAC (Agatston) and CTC were determined. RESULTS: CTC was independently associated with the CAC level and the presence of coronary disease. CONCLUSIONS: CTC values may be associated with CAC and coronary disease. Further studies are needed to know the importance of these markers in clinical practice.
Asunto(s)
Enfermedad de la Arteria Coronaria/diagnóstico , Cistatina C/sangre , Calcificación Vascular/diagnóstico , Adulto , Anciano , Anciano de 80 o más Años , Biomarcadores/sangre , Enfermedad de la Arteria Coronaria/sangre , Enfermedad de la Arteria Coronaria/etiología , Femenino , Humanos , Modelos Logísticos , Masculino , Persona de Mediana Edad , Pronóstico , Factores de Riesgo , Calcificación Vascular/sangre , Calcificación Vascular/complicacionesRESUMEN
OBJECTIVE: To explore whether serotonin-related gene polymorphisms influence clinical outcomes of IVF treatment in recipients using donated oocytes. DESIGN: Nested case-control study. SETTING: University-affiliated infertility clinic. PATIENT(S): Two hundred forty-five women undergoing IVF treatment with donated oocytes. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Genotype and haplotype analysis of the serotonin transporter-linked polymorphic region (5-HTTLPR), rs1800532, rs6295, rs6313, and rs3813929, between recipients grouped according to the results of the oocyte donation for IVF treatment. RESULT(S): No differences were found between genotype distribution of the tryptophan hydroxylase 1, serotonin receptor 2A, and serotonin receptor 2C polymorphisms. Recipients carrying the LL genotype for 5-HTTLPR had lower clinical pregnancy rates (PR) and higher biochemical pregnancy loss (BPL) events. Lower implantation rates were found in CC carriers for 5-HT1A.rs6295 who also presented higher BPL rates. A lower incidence of clinical pregnancy was observed for LC haplotypes, corresponding to an increase in BPL rates. CONCLUSION(S): A strong association was found between early pregnancy loss and recipients carrying the 5-HTTLPR and rs6295 genetic variants. Identifying biological processes involving serotonin and embryo implantation may help to understand the dynamics of the maternal-embryo dialogue.
Asunto(s)
Aborto Espontáneo/genética , Implantación del Embrión/genética , Fertilización In Vitro , Donación de Oocito , Polimorfismo de Nucleótido Simple , Receptor de Serotonina 5-HT1A/genética , Proteínas de Transporte de Serotonina en la Membrana Plasmática/genética , Aborto Espontáneo/fisiopatología , Adulto , Análisis de Varianza , Estudios de Casos y Controles , Distribución de Chi-Cuadrado , Transferencia de Embrión , Femenino , Frecuencia de los Genes , Haplotipos , Humanos , Modelos Logísticos , Oportunidad Relativa , Fenotipo , Embarazo , Factores de Riesgo , Resultado del TratamientoRESUMEN
Fundamento y objetivo: La enfermedad cardiovascular es la principal causa de morbimortalidad en los países industrializados. La cuantificación del calcio arterial coronario (CAC) ha demostrado tener un valor pronóstico independiente e incremental con respecto a los factores de riesgo tradicionales para la predicción de mortalidad y episodios cardiovasculares. El objetivo de nuestro estudio fue determinar la posible relación entre el CAC y la cistatina C (CTC). Pacientes y método: Se incluyeron 104 pacientes con dolor torácico estable, libres de enfermedad cardiovascular y nefropatía, con riesgo cardiovascular intermedio, en los que se determinaron el CAC (Agatston) y CTC. Resultados: La CTC se asoció de forma independiente respecto a los factores de riesgo clásicos con el nivel de CAC y con la presencia de enfermedad coronaria. Conclusiones: Los valores de CTC podrían asociarse con el CAC y con el riesgo de enfermedad coronaria. Es necesaria la aparición de nuevos estudios para conocer la importancia de estos marcadores en la práctica clínica habitual (AU)
Background and objective: Cardiovascular disease is the leading cause of morbimortality in industrialized countries. Quantification of coronary artery calcium (CAC) has been shown to have an independent and incremental prognostic value over traditional risk factors for the prediction of mortality and cardiovascular events. The aim of our study was to determine the possible relationship between CAC and cystatin C (CTC). Patients and method: We included 104 patients with stable chest pain, free of cardiovascular disease and nephropathy, with intermediate cardiovascular risk. Both CAC (Agatston) and CTC were determined. Results: CTC was independently associated with the CAC level and the presence of coronary disease. Conclusions: CTC values may be associated with CAC and coronary disease. Further studies are needed to know the importance of these markers in clinical practice (AU)