RESUMO
Variation within intron 19 of the CLEC16A (KIAA0350) gene region was recently found to be unequivocally associated with type 1 diabetes (T1D) in genome-wide association (GWA) studies in Northern European populations. A variant in intron 22 that is nearly independent of the intron 19 variant showed suggestive evidence of association with multiple sclerosis (MS). Here, we genotyped the rs725613 polymorphism, representative of the earlier reported associations with T1D within CLEC16A, in 1037 T1D cases, 1498 MS cases and 1706 matched controls, all from the founder, autoimmunity-prone Sardinian population. In these Sardinian samples, allele A of rs725613 is positively associated not only with T1D (odds ratio=1.15, P one-tail=5.1 x 10(-3)) but also, and with a comparable effect size, with MS (odds ratio=1.21, P one-tail 6.7 x 10(-5)). Taken together these data provide evidence of joint disease association in T1D and MS within CLEC16A and underline a shared disease pathway.
Assuntos
Diabetes Mellitus Tipo 1/genética , Variação Genética , Estudo de Associação Genômica Ampla , Lectinas Tipo C/genética , Proteínas de Transporte de Monossacarídeos/genética , Esclerose Múltipla/genética , Adulto , Idade de Início , Alelos , Estudos de Casos e Controles , Família , Feminino , Humanos , Itália , Masculino , Razão de Chances , Polimorfismo Genético , ProbabilidadeRESUMO
The analysis of the ascorbic acid (vitamin C; A.A.) contained in some foodstuff and pharmaceutical samples was performed by a new microcalorimetric method. It uses the oxidation of the vitamin C catalysed by the enzyme ascorbate oxidase (A.O.), which gets the specificity of the reaction. The calibration curve was built under the following operative conditions: 25.00 degrees C, pH 5.6, [A.O.]=11 IU ml(-1), the linearity range is: 3=A.A.=270 mg l(-1). The method has been applied to many samples to determine the vitamin C quantity. Each analysis takes about 20 min (the assay time is instead about 5 min, the slow step is due to the time necessary for the calorimeter to return to the operative temperature after washing). No pre-treatments of the samples are requested, unless their solubilisation in buffer. The variations of vitamin C concentration were studied in function of storage time and light exposition. Using a known HPLC assay to compare its reliability on a drug analysis has validated the proposed method.