Tait Karen F, Nithiyananthan Ratnasingam, Heward Joanne M, Barnett Anthony H, Franklyn Jayne A, Gough Stephen C L
Division of Medical Sciences, University of Birmingham, Birmingham B15 2TH, UK.
Autoimmunity. 2004 May;37(3):189-94. doi: 10.1080/08916930410001666631.
Graves' disease (GD) is an autoimmune disorder of the thyroid gland and both environmental and genetic factors contribute to disease aetiology. Cytokines, such as interleukin 4 (IL-4) and interleukin 10 (IL-10), are involved in the immune response and may be implicated in the autoimmune disease process. Associations have been reported between single nucleotide polymorphisms (SNPs) of IL-10 and the Ile50Val polymorphism of the IL-4 receptor gene (IL-4R) gene and atopy and autoimmune diseases such as systemic lupus erythematosus and rheumatoid arthritis. The autoimmune diseases cluster within families and susceptibility genes may overlap between the different disorders. Therefore, we investigated 5 SNPs (-592C/A, -657G/A, - 819C/T, -1349A/G, and -2013G/A) in the promoter region of the IL-10 and the Ile50Val polymorphism (A/G) in the IL-4R in a large UK population based case-control dataset with GD. No association was found between the polymorphisms studied and GD and no significant differences were found in genotype or allele frequencies between the patients and control subjects. We conclude these polymorphisms of IL-10 and IL-4R previously associated with other immune mediated diseases, do not confer susceptibility to GD in white Caucasians in the United Kingdom.
格雷夫斯病(GD)是一种甲状腺自身免疫性疾病,环境和遗传因素均对疾病病因有影响。细胞因子,如白细胞介素4(IL-4)和白细胞介素10(IL-10),参与免疫反应,可能与自身免疫病进程有关。已有报道称,IL-10的单核苷酸多态性(SNP)以及IL-4受体基因(IL-4R)的Ile50Val多态性与特应性和自身免疫性疾病(如系统性红斑狼疮和类风湿性关节炎)之间存在关联。自身免疫性疾病在家族中聚集,不同疾病之间的易感基因可能重叠。因此,我们在一个基于英国大样本人群的GD病例对照数据集中,研究了IL-10启动子区域的5个SNP(-592C/A、-657G/A、-819C/T、-1349A/G和-2013G/A)以及IL-4R的Ile50Val多态性(A/G)。未发现所研究的多态性与GD之间存在关联,患者与对照受试者之间的基因型或等位基因频率也未发现显著差异。我们得出结论,先前与其他免疫介导疾病相关的IL-10和IL-4R的这些多态性,不会使英国白种人易患GD。