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
Rev. méd. Chile
;
138(5): 543-550, mayo 2010. tab
Article
in Spanish
| LILACS
| ID: lil-553252
ABSTRACT
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 andMethods:
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.
Full text:
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Index:
LILACS (Americas)
Main subject:
Polymorphism, Genetic
/
Autoimmune Diseases
/
Antigens, CD
/
Diabetes Mellitus, Type 1
/
Apoptosis Regulatory Proteins
Limits:
Adolescent
/
Child
/
Female
/
Humans
/
Male
Country/Region as subject:
South America
/
Chile
Language:
Spanish
Journal:
Rev. méd. Chile
Journal subject:
Medicine
Year:
2010
Type:
Article
/
Project document
Affiliation country:
Chile
Institution/Affiliation country:
Hospital San Juan de Dios/CL
/
Universidad de Chile/CL
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