Frecuencia de polimorfismo C1858T del gen PTPN22 y marcadores de autoinmunidad en pacientes chilenos con diabetes tipo 1 y enfermedad celíaca / C1858T polymorphism of protein tyrosine phosphatase, non-receptor type 22 (PTPN22) gene in diabetic and celiac patients
Rev. chil. endocrinol. diabetes
;
5(2): 68-72, abr. 2012. tab
Artigo
em Espanhol
| LILACS
| ID: lil-640616
ABSTRACT
Background:
A genetic polymorphism called C1858T of protein tyrosine phosphatase, non-receptor type 22 (PTPN22) gene has been associated with autoimmune diseasesAim:
To describe the association between two autoimmune diseases, namely type 1 diabetes (T1D) and celiac disease (CD)and tyrosine phosphatase gene polymorphisms (variant C1858T of PTPN22). Subjects andMethods:
C1858T single-nucleotide polymorphism within the PTPN22 gene was genotyped in 209 patients with T1D, 43 celiac patients and 100 healthy controls.Results:
CC gene frequency was 0.906 and 0.790 in CD patients and controls respectively ( p < 0.01). All analyzed groups had a low frequency of the TT genotype. Compared with the other study groups, patients with T1D had a low frequency of CC genotype (0.636). Also, in these patients, there was a non-significant association between CC genotype and islet cell IA-2 auto antibodies (p < 0.065). Among CD patients, CC genotype was significantly associated with anti-transglutaminase or anti endomysial antibodies (p < 0.03).Conclusions:
These results confirm the association of the genetic variant C1858T of PTPN22 with CD. In contrast to published data, this association was not found in T1D patients.
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Índice:
LILACS (Américas)
Assunto principal:
Doença Celíaca
/
Diabetes Mellitus Tipo 1
Tipo de estudo:
Estudo observacional
/
Fatores de risco
Limite:
Adolescente
/
Adulto
/
Criança
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
América do Sul
/
Chile
Idioma:
Espanhol
Revista:
Rev. chil. endocrinol. diabetes
Assunto da revista:
Endocrinologia
Ano de publicação:
2012
Tipo de documento:
Artigo
/
Documento de projeto
País de afiliação:
Chile
Instituição/País de afiliação:
Universidad de Chile/CL
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