Turku Centre for Biotechnology, University of Turku and Åbo Akademi University, Turku, FinlandTurku Doctoral Programme of Biomedical Sciences, Turku, FinlandThe Finnish Centre of Excellence in Molecular Systems Immunology and Physiology Research, Helsinki, Finland.
Turku Centre for Biotechnology, University of Turku and Åbo Akademi University, Turku, FinlandBiomathematics Research Group, Department of Mathematics, University of Turku, Turku, Finland.
Diabetes. 2014 Jul;63(7):2402-14. doi: 10.2337/db13-1775. Epub 2014 Feb 18.
The insult leading to autoantibody development in children who will progress to develop type 1 diabetes (T1D) has remained elusive. To investigate the genes and molecular pathways in the pathogenesis of this disease, we performed genome-wide transcriptomics analysis on a unique series of prospective whole-blood RNA samples from at-risk children collected in the Finnish Type 1 Diabetes Prediction and Prevention study. We studied 28 autoantibody-positive children, out of which 22 progressed to clinical disease. Collectively, the samples covered the time span from before the development of autoantibodies (seroconversion) through the diagnosis of diabetes. Healthy control subjects matched for date and place of birth, sex, and HLA-DQB1 susceptibility were selected for each case. Additionally, we genotyped the study subjects with Immunochip to identify potential genetic variants associated with the observed transcriptional signatures. Genes and pathways related to innate immunity functions, such as the type 1 interferon (IFN) response, were active, and IFN response factors were identified as central mediators of the IFN-related transcriptional changes. Importantly, this signature was detected already before the T1D-associated autoantibodies were detected. Together, these data provide a unique resource for new hypotheses explaining T1D biology.
导致将发展为 1 型糖尿病 (T1D) 的儿童产生自身抗体的侮辱仍然难以捉摸。为了研究该疾病发病机制中的基因和分子途径,我们对来自芬兰 1 型糖尿病预测和预防研究中具有独特前瞻性全血 RNA 样本的高危儿童进行了全基因组转录组分析。我们研究了 28 名自身抗体阳性的儿童,其中 22 名发展为临床疾病。这些样本共同涵盖了从自身抗体(血清转换)出现到糖尿病诊断的时间跨度。为每个病例选择了与出生日期、地点、性别和 HLA-DQB1 易感性相匹配的健康对照。此外,我们对研究对象进行了 Immunochip 基因分型,以鉴定与观察到的转录特征相关的潜在遗传变异。先天免疫功能相关的基因和途径(如 1 型干扰素 (IFN) 反应)活跃,IFN 反应因子被确定为 IFN 相关转录变化的中心介质。重要的是,在检测到与 T1D 相关的自身抗体之前,就已经检测到了这种特征。这些数据共同为解释 T1D 生物学的新假设提供了独特的资源。