Institute of Human Genetics, Polish Academy of Sciences, 32 Strzeszynska, 60-479, Poznan, Poland,
Mol Biol Rep. 2013 Dec;40(12):6957-63. doi: 10.1007/s11033-013-2815-9. Epub 2013 Oct 24.
Polymorphic variants at the interleukin-2 (IL2) locus affect the risk of several autoimmune disorders. Our aim was to evaluate the association of the four IL2 polymorphisms (rs6822844, rs6534349, rs2069762 and rs3136534) with type 1 diabetes (T1D) in the Polish population, and to correlate them with the serum interleukin-2 levels. 543 unrelated T1D patients and 706 healthy control subjects were enrolled. The minor T allele at rs6822844 was significantly less frequent in T1D compared to controls (p = 0.002; OR 0.71; 95 % CI 0.571-0.880). Likewise, the frequency of the TT genotype was decreased among the affected individuals (p = 0.007). In healthy subjects, stratification according to the rs6822844 genotype revealed significant differences in circulating interleukin-2 (p = 0.037) with the highest levels in TT protective genotypes. Three other IL2 polymorphisms did not display significant differences in allele and genotype distribution. In conclusion, the rs6822844 variant is associated with T1D and may play a functional role, or reflect the influence of another causative genetic variant in linkage disequilibrium.
白细胞介素-2（IL2）基因座的多态性变体影响多种自身免疫性疾病的风险。我们的目的是评估四个白细胞介素-2 多态性（rs6822844、rs6534349、rs2069762 和 rs3136534）与波兰人群 1 型糖尿病（T1D）的关联，并将其与血清白细胞介素-2 水平相关联。纳入了 543 名无关 T1D 患者和 706 名健康对照者。与对照组相比，rs6822844 中的次要 T 等位基因在 T1D 中明显较少（p=0.002；OR 0.71；95%CI 0.571-0.880）。同样，TT 基因型在受影响个体中的频率降低（p=0.007）。在健康受试者中，根据 rs6822844 基因型进行分层，发现循环白细胞介素-2 存在显著差异（p=0.037），TT 保护性基因型的水平最高。其他三个 IL2 多态性在等位基因和基因型分布上没有显示出显著差异。总之，rs6822844 变体与 T1D 相关，可能具有功能作用，或反映连锁不平衡中另一个致病遗传变异的影响。
