Caputo Mariela, Cerrone Gloria Edith, Mazza C, Cédola N, Targovnik Hector Manuel, Gustavo Daniel Frechtel
Laboratory of Molecular Biology, Department of Genetic and Molecular Biology, School of Pharmacy and Biochemistry, University of Buenos Aires, and Nutrition Unit, Hospital of Pediatry, Argentina.
Immunol Invest. 2007;36(3):259-70. doi: 10.1080/08820130601109735.
Autoimmune diabetes is an organ specific and multifactorial disorder including insulin dependent diabetes mellitus (Type 1 Diabetes) and latent autoimmune diabetes in adults (LADA), which progresses to insulin dependency because of the beta cells destruction. Several polymorphisms in different genes have been associated with diabetes. The CTLA4 gene is considered a down regulator of T cell function, and the SUMO4 gene encodes a small ubiquitin-like modifier implicated in the intensity and duration of the immune response. We selected 62 LADA patients, 123 patients with Type 1 diabetes patients and 136 unrelated volunteers to study CTLA4 -318 C/T, 159 C/T, 3' STR and SUMO4 163 A/G polymorphisms by PCR. There was a statistical difference significant in the frequency of the allele 209pb for the 3'STR between LADA and Type 1 diabetes patients but not with respect the normal group, the frequencies were found to be 6.9%, 1.0% and 1.9%, respectively. However, no association with either of the polymorphisms has been found in the studied population. The knowledge of the several susceptibility loci in autoimmune diabetes will enhanced the prediction of individuals at high risk of developing the disease in order to establish the best treatment and the prevention of autoimmune diabetes.
自身免疫性糖尿病是一种器官特异性的多因素疾病,包括胰岛素依赖型糖尿病(1型糖尿病)和成人隐匿性自身免疫性糖尿病(LADA),由于β细胞破坏,其会发展为胰岛素依赖。不同基因中的几种多态性与糖尿病有关。细胞毒性T淋巴细胞相关抗原4(CTLA4)基因被认为是T细胞功能的下调因子,而小泛素样修饰物4(SUMO4)基因编码一种参与免疫反应强度和持续时间的小泛素样修饰物。我们选取了62例LADA患者、123例1型糖尿病患者和136名无关志愿者,通过聚合酶链反应(PCR)研究CTLA4 -318 C/T、159 C/T、3'短串联重复序列(STR)以及SUMO4 163 A/G多态性。LADA患者和1型糖尿病患者之间3'STR的209pb等位基因频率存在统计学显著差异,但与正常组相比无差异,其频率分别为6.9%、1.0%和1.9%。然而,在所研究的人群中未发现与任何一种多态性存在关联。了解自身免疫性糖尿病中的几个易感基因座将提高对患该疾病高风险个体的预测能力,以便制定最佳治疗方案并预防自身免疫性糖尿病。