research paper: IL1RN VNTR and IL2−330 polymorphic genes are independently associated with chronic immune thrombocytopenia

Summary Chronic Immune Thrombocytopenia (cITP)isan acquired immune-mediated disease associated with a T-helper cell type 1 (Th1) immune polarization, whose genetic risk factors, however, are largely unknown. We investigated polymorphisms in promoter regions of genes that code molecules involved in proinflammatory immune response [IL1B )31T/C, IL1RN variable number tandem repeats (VNTR), IL2 )330T/G, and TNF )307G/A] as well as in genes that code Toll like receptors (TLR) (TLR2 Arg753Gln, TLR4 Asp299Gly and TLR5 Arg 392stop ) in 122 patients with cITP and 541 blood donors. The frequencies of the IL1RN polymorphic allele 2 (P =0 AE001) and of the IL2 )330 polymorphic allele G (P =0 AE004) were significantly higher in cITP patients than in blood donors. In logistic analysis adjusting for age and gender, the polymorphisms remained independently associated with cITP. Enhanced serum concentrations of interleukin (IL)-1a and IL-1b were observed in cITP (P