EFFECT OF IRP 1 AND IRP 2 GENE POLYMORPHISMS ON BLOOD IRON LEVELS OF THALASSEMIA PATIENTS IN TURKISH POPULATION
Abstract
In
thalassemia, repeated blood transfusions, cell destruction and increased
absorption of iron from intestine lead to iron accumulation which causes
toxicity. The aim of this study was to determine the effect of iron-regulatory
protein 1 (IRP1) and iron-regulatory protein 2 (IRP2) gene polymorphism on
blood iron levels in 100 thalassemia patients in Turkish population.
The
study population comprised 100 genetically unrelated thalassemia patients (50
female and 50 male). Firstly, the genotypes of G>A-IRP1 (rs867469)
polymorphism were determined by the Allele-Specific Oligonucleotide-Polymerase
Chain Reaction method. The genotypes of G>A-IRP2 (rs17483548) were
investigated by Polymerase Chain Reaction-Restriction Fragment Length
Polymorphism method. Secondly, blood iron concentrations were measured by Flame
Atomic Absorption Spectroscopy.
The
genotype frequencies of IRP1 were found as 54% homozygote typical (GG), 34%
heterozygote (GA) and 12% homozygote atypical (AA) and the genotype frequencies
of IRP2 were found as 42% homozygote typical (GG), 46% heterozygote (GA) and
12% homozygote atypical (AA). Although individuals with the GG genotype of IRP1
gene polymorphism had higher blood iron level (300.42±61.06 µg/L) than those with GA (284.31±48.23µg/L)
and AA (280.85±62.64µg/L) genotypes, according to the statistical analysis the
results were not statistically significant (p>0.05). Although individuals
with the GG genotype of IRP2 gene polymorphism had also higher blood iron level
(298,35±42.30 µg/L) than those with GA (289.47±64.83µg/L) and AA
(284.44±73.69µg/L) genotypes, according to the statistical analysis the results
were not statistically significant (p>0.05). Further studies with larger study groups and different
populations can elucidate the influence of this polymorphism on thalassemia
This study was supported by the Scientific and Technical Research
Council of Turkey (TUBITAK), Project number 114S312.
References
- Department of Physiology, Hacettepe University, Faculty of Medicine, Turkey
- Department of Forensic Chemistry and Forensic Toxicology, Ankara University, Institute of Forensic Sciences, Turkey
Abstract
References
- Department of Physiology, Hacettepe University, Faculty of Medicine, Turkey
- Department of Forensic Chemistry and Forensic Toxicology, Ankara University, Institute of Forensic Sciences, Turkey
Details
| Journal Section | Articles |
|---|---|
| Authors | |
| Publication Date | February 16, 2017 |
| Published in Issue | Year 2017 Volume: Volume 2 Issue: İssue 1 (1) - 2.İnternational Congress Of Forensic Toxicology |
