Polimorfismos del gen del receptor de muerte celular programada 1 (PDCD1) y diabetes tipo 1 en población Chilena / Programmed cell death 1 (PDCD1) gene polymorphisms and type 1 diabetes in Chilean children

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.

The association of programmed cell death 1 (PDCD1) gene polymorphism with ankylosing spondylitis in a Korean population / 대한내과학회지

BACKGROUND: The programmed death 1 (PD-1) protein, the product of the PDCD1 gene, is a negative regulator of T cells, and a genetic association of PDCD1 in systemic lupus erythematosus and rheumatoid arthritis (RA) in Caucasians has been reported. However, there have been no studies on the association of this gene and ankylosing spondylitis (AS). The aim of this study was to investigate the association of PD-1 polymorphisms with ankylosing spondylitis in the Korean population METHODS: One single-nucleotide polymorphism PD-1.9 T/C were genotyped in 95 patients with AS and 130 healthy controls in a case-control association study. We analyzed this SNP by use of a PCR-RFLP assay using genomic DNA. RESULTS: The T allele of the PD-1.9 polymorphism was significantly more frequent in a Korean male population with AS than in Korean male controls (21.0% versus 6.9%; odds ratio[OR] 1.89; 95% confidence interval [95% CI] 1.483-2.408). CONCLUSIONS: We demonstrated the presence of the PD-1 polymorphism in Korean AS patients. This finding suggests a genetic association between the PD-1 polymorphism and AS susceptibility.