Genetic variations of complement factor H and C3 in patients with thrombotic thrombocytopenic purpura (TTP) in northwest of Iran

摘要

Background: Thrombotic thrombocytopenic purpura (TTP) is a common form of thromboticmicroangiopathy. These patients have renal insufficiency as well as thrombocytopenia andmicroangiopathic hemolysis.Objectives: The present study was aimed to assess if TTP patients with renal failure haveprompting polymorphisms in the complement system genes as seen in patients with theatypical hemolytic uremic syndrome (aHUS).Patients and Methods: Twenty TTP patients and 30 healthy individuals were included. Twosingle-nucleotide polymorphisms rs3753394 and rs2230199 respectively in the complementfactor H (CFH) and complement component 3 (C3) genes were determined using the PCRrestrictionfragment length polymorphism (RFLP) method. To evaluate the power of theassociations between the polymorphisms and TTP development, odds ratios (ORs) and95% confidence intervals (CIs) were employed.Results: In rs2230199 polymorphism, the frequency of the C and G alleles and genotypewere not significantly different in case and control groups. Moreover, the frequency of Tallele and CC, CT, and TT genotypes of the rs3753394 polymorphism in TTP patients werenot significantly different from those in the controls, the OR of 0.77 [CI: 0.33 to 1.79] and0.76 [CI: 0.24 to 2.38], respectively (P > 0.05).Conclusions: Based on our results, there was no significant association between the incidenceof TTP and polymorphisms of the CFH and C3 genes, neither at the allele nor at thegenotypic levels (P > 0.05). This finding can be affected by the limited sample size or thegenetic context of the studied population.