Identification of loci and signaling pathways associated with ITP using pooling genome-wide association study in Han Chinese

Immune thrombocytopenia (ITP) is an autoimmnue bleeding disorder characterized by low platelet count. To identify susceptibility loci for disease progression of ITP, we performed this genome-wide association study using DNA pools of 200 ITP cases and 200 controsl in Han Chinese. Performing GWAS on pools of DNA samples is an effective strategy to reduce the costs of studies and pooling DNA has been shown to be an efficient method to select candidate susceptibility loci for follow-up by individual genotyping. Illumina HumanOmniZhongHua-8 v1.0 BeadChip array were performed for DNA pools, which were constructed by pooling 50ng DNA from each participant. Two independent pools were created: case group was 200 sporadic ITP in Han Chinese, control group was 200 healthy subjects which age-, sex, race-matched with cases. Equimolar amounts of each DNA sample were then added to either the case or control pool. Two chips (each pool was replicated in triplicate) were finished according to the manufacturer's instruction.