Frecuencia del polimorfismo PD-1.3 del gen del receptor de muerte celular programada 1 (PD-1) y su asociación con diabetes tipo 1 / Frequency of polymorphism PD-1.3 of programmed cell death 1 (PD-1) and their association with type 1 diabetes
Rev. chil. endocrinol. diabetes
;
6(2): 55-58, abr. 2013. tab
Artículo
en Español
| LILACS
| ID: lil-726575
ABSTRACT
Background:
The programmed cell death 1 (PDCD-1) immune-receptor is a key element in the negative regulation of peripheral tolerance in T cells. The gene has several polymorphisms and can be associated with susceptibility to autoimmune diseases.Aim:
To analyze the frequency and distribution of PD-1.3 polymorphism of PDCD-1 gene and explore its possible contribution as a susceptibility gene for type 1 diabetes (T1D). Patients andMethods:
We analyzed 248 cases with T1D with recent diagnosis and 160 control children under 15 years of Santiago. Genetic polymorphism in PD-1 gene variant for PD-1.3 (rs 11568821) was analyzed by polymerase chain reaction and restriction fragment length polymorphism. Comparison of genotype, allele frequency and consistency with respect to Hardy-Weinberg were analyzed using X2 tests and Fisher exact test.Results:
There was a very low frequency of the genotype A/A, both in T1D patients and in controls (< 2 percent). The A/G genotype was more common in diabetic patients than in controls (41.6 and 18.8 percent respectively, p < 0.04). G/G genotype was more common in controls than in patients (79.4 and 56.8 percent respectively, p < 0.02). T1D patients carrying genotype G/G had a higher frequency of anti-GAD65 and anti-A-2 antibodies (81 and 67 percent respectively).Conclusions:
The distribution of PD-1.3 genotype frequencies are similar to that reported elsewhere. Possibly, this genetic variant (rs 11568821) does not have an important marker role in Chilean T1D patients.
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Asunto principal:
Polimorfismo Genético
/
Diabetes Mellitus Tipo 1
/
Receptor de Muerte Celular Programada 1
Tipo de estudio:
Factores de riesgo
Límite:
Adolescente
/
Niño
/
Humanos
Idioma:
Español
Revista:
Rev. chil. endocrinol. diabetes
Asunto de la revista:
Endocrinologia
Año:
2013
Tipo del documento:
Artículo
/
Documento de proyecto
País de afiliación:
Chile
Institución/País de afiliación:
Universidad de Chile/CL
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