RESUMEN
A previous expression profiling of visceral adipose tissue (VAT) revealed that the immune response gene interferon-gamma-inducible protein 30 (IFI30) gene was 1.72-fold more highly expressed in non-diabetic severely obese men with the metabolic syndrome as compared to those without. Given the importance of low-grade inflammation in obesity-related metabolic complications, we hypothesized that variants in the IFI30 gene are associated with cardiovascular disease (CVD) risk factors. A detailed genetic investigation was performed at the IFI30 locus by sequencing its promoter, exons and intron-exon junction boundaries using DNA of 25 severely obese men. Among the 21 sequence-derived single-nucleotide polymorphisms (SNPs), 5 tagged SNPs (covering 100% of the common SNPs identified) were genotyped in two independent samples of severely obese patients (total n = 1,283). Using a multistage experimental design, chi-square analyses and logistic regressions were performed to compare genotype frequencies and compute odds-ratios (OR) for low and high CVD risk groups (dyslipidemia, hyperglycemia/diabetes and hypertension). A significant association was observed with the non-synonymous SNP rs11554159 (p.R76Q), where GA individuals showed lower risk (OR = 0.67; P = 0.0009) for hyperglycemia/diabetes as compared to homozygotes for the major allele (GG). No association was observed between rs11554159 and VAT IFI30 mRNA levels (P = 0.81), and the expression levels were not correlated with fasting plasma glucose levels (P = 0.31) in 112 non-diabetic severely obese women. The localization of rs11554159 near the active site of IFI30 suggests a functional effect of this SNP. This study showed a novel association between rs11554159 (p.R76Q) polymorphism at the IFI30 locus and the risk of hyperglycemia/diabetes in severely obese individuals.
Asunto(s)
Hiperglucemia/etiología , Obesidad/complicaciones , Obesidad/genética , Oxidorreductasas actuantes sobre Donantes de Grupos Sulfuro/genética , Polimorfismo de Nucleótido Simple/genética , Adulto , Enfermedades Cardiovasculares/etiología , Enfermedades Cardiovasculares/patología , Estudios de Casos y Controles , Diabetes Mellitus/etiología , Diabetes Mellitus/patología , Femenino , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Hiperglucemia/patología , Desequilibrio de Ligamiento , Masculino , ARN Mensajero/genética , Reacción en Cadena en Tiempo Real de la Polimerasa , Factores de RiesgoRESUMEN
Selenium (Se) was measured in the semen of 125 men from couples consulting for infertility. A mean concentration of 71.3 +/- 29.7 ng/ml of semen was found, with a range of 7 to 230 ng/ml. More than 85% of the Se is in the seminal plasma. There was a significant positive correlation between sperm count and semen Se. Sperm motility was maximal at semen Se levels ranging between 50 and 69 ng/ml; above and below this range, motility was decreased and the incidence of asthenospermia was high. This result suggests an optimal range for semen Se. A follow-up of 4.5 to 5 years after the initial assay of Se revealed that low semen Se levels (less than or equal to 35 ng/ml) were associated with male infertility. A Se level between approximately 40 and 70 ng/ml was optimal for reproductive performance (high pregnancy rate and low abortion rate). Semen Se levels greater than or equal to 80 ng/ml were associated with a high abortion rate and signs of ovarian dysfunction in the partner (both partners usually have the same diet and environmental exposure). These results attest to the role of Se in human reproduction, a well-established fact in several animal species. The semen Se level appears to be a useful indicator of Se status versus reproductive function. Further studies are warranted concerning the general aspects of metabolism and mechanism of action of Se in infertile couples before any therapeutic modification of intake of this element can be contemplated.
Asunto(s)
Fertilidad , Infertilidad Masculina/etiología , Selenio/análisis , Semen/análisis , Aborto Espontáneo/etiología , Femenino , Fluorometría , Humanos , Infertilidad Masculina/diagnóstico , Masculino , Oligospermia/diagnóstico , Embarazo , Reproducción , Recuento de Espermatozoides , Motilidad EspermáticaRESUMEN
Red cell deformability, which allows cells of 7 mu diameter to flow through capillaries not larger than 3 mu, can be approached by the measure of blood filterability on nuclepore 5 mu filters. Filterability is reduced in arterial diseases. We have, in 72 patients, correlated red cell filterability, with the number of cardiovascular risk factors present high blood pressure, overweight, diabetes, hyperuricemia, hyperlipemia smoking). There is a statistical difference between groups with risk factors present as a whole and with O risk factor (p less than 0.01). The difference is highly significant between O and 4 risk factors (p less than 0.0005). Filterability decrease is also directly correlated with the number of cigarettes smoked per day (less than 0.05) and decrease is enhanced by smoking two cigarettes.
Asunto(s)
Eritrocitos/citología , Fumar/sangre , Enfermedades Vasculares/sangre , Filtración , Humanos , Filtros Microporos , RiesgoRESUMEN
Testicular feminization is a classic form of complete male pseudohermaphroditism. The individuals have a normal XY karyotype but unambiguously female external genitalia. They have congenital complete insensitivity to androgen due to an X-linked mutation. In four patients (from tow families with several affected members) with the typical phenotype of testicular feminization, a severe deficit of specific androgen-binding activity was detected in cultured fibroblasts from labium majus skin. Measurement of this activity in genital skin fibroblasts improves the differential diagnosis in patients with complete or imcomplete male pseudohermaphroditism before puberty.