Polimorfismos del gen del receptor de muerte celular programada 1 (PDCD1) y diabetes tipo 1 en población Chilena
| Autor: | Megan Beems, Sylvia Flores R, Francisco Pérez B, Elena Carrasco P, Amaya Oyarzún A |
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| Rok vydání: | 2010 |
| Předmět: | |
| Zdroj: | Revista médica de Chile v.138 n.5 2010 SciELO Chile CONICYT Chile instacron:CONICYT |
| ISSN: | 0034-9887 |
| DOI: | 10.4067/s0034-98872010000500003 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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