Single nucleotide polymorphism in the methyl-CpG binding domain 4 Gene and the risk for immune thrombocytopenic purpura in Chinese population

Epigenetics might contribute to autoimmune diseases including immune thrombocytopenic purpura (ITP). Methyl-CpG binding domain protein 4 (MBD4) plays an important role in DNA methylation and transcriptional regulation of gene expression. The polymorphism of the MBD4 gene may influence MBD4 activity on gene expression profiles, thereby influencing individual susceptibility to ITP. To verify this hypothesis, we investigated the association between the MBD4 polymorphism and the risk for ITP in the Chinese population. The polymorphism of MBD4 rs140693 was genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). In this study, there was no significant difference in genotype and alleles distribution between the ITP patients and the controls. Similar results were observed between the two groups when stratified by age and disease course including acute childhood, chronic childhood, acute adult and chronic adult. In the conclusion, MBD4 polymorphism may not be a stratification marker to predict the susceptibility to ITP, at least in Chinese population.