ISSN: 2251-8363    eISSN: 2251-8819  
J Nephropathol. 2018;7(2):74-78.
doi:10.15171/jnp.2018.18

Original Article

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

Sepideh Zununi Vahed 1, Bahram Niknafs 1, Mahmoud Shekari Khaniani 2, Mohammadreza Ardalan 1 *

1 Kidney Research Center, Tabriz University of Medical Sciences, Tabriz, Iran
2 Department of Clinical Biochemistry, Division of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran
*Corresponding author: Prof. Mohammadreza Ardalan, Email: ardalan34@yahoo.com

Abstract

Background: Thrombotic thrombocytopenic purpura (TTP) is a common form of thrombotic microangiopathy. These patients have renal insufficiency as well as thrombocytopenia and microangiopathic hemolysis.

Objectives: The present study was aimed to assess if TTP patients with renal failure have prompting polymorphisms in the complement system genes as seen in patients with the atypical hemolytic uremic syndrome (aHUS).

Patients and Methods: Twenty TTP patients and 30 healthy individuals were included. Two single-nucleotide polymorphisms rs3753394 and rs2230199 respectively in the complement factor H (CFH) and complement component 3 (C3) genes were determined using the PCRrestriction fragment length polymorphism (RFLP) method. To evaluate the power of the associations between the polymorphisms and TTP development, odds ratios (ORs) and 95% confidence intervals (CIs) were employed.

Results: In rs2230199 polymorphism, the frequency of the C and G alleles and genotype were not significantly different in case and control groups. Moreover, the frequency of T allele and CC, CT, and TT genotypes of the rs3753394 polymorphism in TTP patients were not significantly different from those in the controls, the OR of 0.77 [CI: 0.33 to 1.79] and 0.76 [CI: 0.24 to 2.38], respectively (P > 0.05).

Conclusions: Based on our results, there was no significant association between the incidence of TTP and polymorphisms of the CFH and C3 genes, neither at the allele nor at the genotypic levels (P > 0.05). This finding can be affected by the limited sample size or the genetic context of the studied population.

Implication for health policy/practice/research/medical education:

In the present study we aimed to examine the impact of the complement factor genes polymorphisms (CFH and C3 genes) in TTP patients. No significant association was found between the incidence of TTP and polymorphisms of the CFH and C3 genes, neither at the allele nor at the genotypic levels.

Please cite this paper as: Zununi Vahed S, Niknafs B, Shekari Khaniani M, Ardalan MR. Genetic variations of complement factor H and C3 in patients with thrombotic thrombocytopenic purpura (TTP) in north-west of Iran.. J Nephropathol. 2018;7(x):x-x. DOI: 10.15171/jnp.2017.xx.

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Submitted: 03 Sep 2017

Accepted: 14 Nov 2017
First published online: 22 Nov 2017
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