SciELO - Scientific Electronic Library Online

vol.138 número5Caracterización de madres deprimidas en el pospartoValidación de la escala de autoeficacia general en Chile índice de autoresíndice de materiabúsqueda de artículos
Home Pagelista alfabética de revistas  

Servicios Personalizados




Links relacionados


Revista médica de Chile

versión impresa ISSN 0034-9887


FLORES R, SYLVIA et al. Programmed cell death 1 (PDCD1) gene polymorphisms and type 1 diabetes in Chilean children. Rev. méd. Chile [online]. 2010, vol.138, n.5, pp.543-550. ISSN 0034-9887.

Background: Programmed cell death 1 (PDCD-1) immune-receptor is a key element in the negative regulation of peripheral tolerance in T cells. Several polymorphisms of this gene have been described and it is linked with susceptibility to autoimmune diseases like Lupus and Multiple Sclerosis. Aim: To analyze four gene polymorphisms of PDCD-1 gene and explore its possible contribution as a susceptibility gene for type 1 diabetes (T1D). Patients and Methods: We analyzed 160 cases with T1D of recent diagnosis aged 9.5 ± 3.3 years and 160 control children aged 10.7 ± 3.1 years. Four genetic variants of PDCD-1 gene were studied (PD1.2; PD1.5; PD1.6 and PD1.9) by polymerase chain reaction and restriction enzymes. Autoantibodies GAD65 and anti-IA-2 were also measured in all studied children. The comparison of allelic and genotypic frequency and consistency with respect to Hardy-Weinberg equilibrium test were analyzed using Chi-square and Fisher exact test. Results: No differences between cases and controls were observed for PDCD1.2; PDCD1.5 and PDCD1.9 polymorphisms. PDCD1.6 polymorphism (carriers of allele A) had a higher frequency in the control group (0.794 versus 0.644, p < 0.017). There was no particular association of these polymorphisms with anti- GAD65 and anti-IA-2 antibodies among patients with T1D. Conclusions: Only PDCD1.6 polymorphism showed differences between T1D cases and controls. Possibly, none of these genetic variants of PDCD1 has a relevant role as a marker for T1D in the Chilean population.

Palabras clave : Diabetes mellitus; Genetic; Human; PDCD-1 protein; Polymorphisms; Type 1.

        · texto en Español     · Español ( pdf )


Creative Commons License Todo el contenido de esta revista, excepto dónde está identificado, está bajo una Licencia Creative Commons