Chagastelles P C, Romitti M, Trein M R, Bandinelli E, Tschiedel B, Nardi N B
Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
Tissue Antigens. 2010 Aug;76(2):144-8. doi: 10.1111/j.1399-0039.2010.01480.x. Epub 2010 Mar 22.
The 1858T allele of the protein tyrosine phosphatase nonreceptor 22 (PTPN22) gene has been associated to diabetes in different populations. We investigated a possible relationship between this polymorphism and type 1 diabetes in a cohort of Brazilian patients. A significantly higher frequency of the 1858T allele was observed in diabetic patients (n = 211) than in control individuals (n = 241). Additionally, the heterozygote genotype was also increased in the diabetic group. No association was observed between the PTPN22 T allele and gender, or between T carriers and age of onset of T1D. This work describes for the first time a strong association of the 1858T allele with type 1 diabetes in a Brazilian population, reinforcing the role of this variant as an important susceptibility factor for this disease.
蛋白酪氨酸磷酸酶非受体22（PTPN22）基因的1858T等位基因在不同人群中与糖尿病相关。我们在一组巴西患者中研究了这种多态性与1型糖尿病之间的可能关系。在糖尿病患者（n = 211）中观察到1858T等位基因的频率显著高于对照个体（n = 241）。此外，糖尿病组中杂合子基因型也有所增加。未观察到PTPN22 T等位基因与性别之间的关联，也未观察到T等位基因携带者与1型糖尿病发病年龄之间的关联。这项工作首次描述了1858T等位基因与巴西人群中1型糖尿病的强烈关联，强化了该变体作为这种疾病重要易感因素的作用。
