Frecuencia del polimorfismo C1858T del gen PTPN22 y marcadores de autoinmunidad en pacientes chilenos con diabetes tipo 1 y enfermedad celíaca
Keywords: genetic markers, polymorphisms, type 1 diabetes, PTPN22, Autoimmunity.
Abstract
A genetic polymorphism called C1858T of protein tyrosine phosphatase, non-receptor type 22 (PTPN22) gene has been associated with autoimmune diseases Aim: 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 and Methods: 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.
Más información
Título de la Revista: | Revista Chilena de Endocrinología y Diabetes |
Volumen: | 5 |
Número: | 2 |
Fecha de publicación: | 2012 |
Página de inicio: | 68 |
Página final: | 72 |
Idioma: | Español |