Genome-wide DNA methylation analysis in primary antiphospholipid syndrome neutrophils. Genome-wide DNA methylation analysis in primary antiphospholipid syndrome neutrophils

Antiphospholipid syndrome (APS) is a systemic autoimmune disease characterized by thromboembolic events and pregnancy loss. We sought to characterize the DNA methylation profile of primary APS in comparison to healthy controls and individuals with SLE. Overall design: Illumina methylation array of genomic DNA from neutrophils extracted from whole blood from 10 antiphospholipid syndrome (APS) patients and 12 healthy controls (CON). Initially, 12 participants with primary APS were recruited from the University of Michigan rheumatology clinics. All met the Sydney APS Classification Criteria. From this group, 10 were successfully run on the DNA methylation array, and as such the final primary APS cohort was comprised of these 10 individuals. A total of 12 controls were matched to the original 12 primary APS participants by age (± 5 years), sex, and ethnicity. All participants in both groups were of European-American ethnicity.

抗磷脂综合征（Antiphospholipid syndrome, APS）是一类以血栓栓塞事件与妊娠丢失为主要特征的系统性自身免疫疾病。本研究旨在对比原发性APS与健康对照及系统性红斑狼疮（systemic lupus erythematosus, SLE）患者的DNA甲基化谱特征。
实验设计方案：本研究共纳入10名抗磷脂综合征患者与12名健康对照，提取其全血中性粒细胞的基因组DNA，采用Illumina甲基化芯片（Illumina methylation array）进行检测。最初，研究团队从密歇根大学风湿病门诊招募了12名原发性APS受试者，所有受试者均符合悉尼APS分类标准（Sydney APS Classification Criteria）。最终从该队列中成功完成10例样本的甲基化芯片检测，因此最终原发性APS队列由这10名受试者组成。本研究的12名健康对照均按年龄（±5岁）、性别及种族与最初招募的12名原发性APS受试者进行匹配，且两组所有受试者均为欧裔美国人。