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Interleukin-1Ra rs2234663 and Interleukin-4 rs79071878 Polymorphisms in Familial Mediterranean Fever
Ayse Feyda Nursal1, Akin Tekcan2, Suheyla Uzun Kaya3
1Giresun University, Faculty of Medicine, Department of Medical Genetic, Giresun, Turkey.
Objective:
Familial Mediterranean Fever (FMF) is an autosomal recessively inherited auto inflammatory disorder. MEFV gene, causing FMF, encodes pyrin that is associated with the interleukin-1 (IL-1) related inflammation cascade. The aim of this study was to investigate the relationship of interleukin-1 receptor antagonist (IL-1Ra) and interleukin-4 (IL-4) polymorphisms with the risk of FMF in the Turkish population.
Methods:
This study included 160 patients with FMF (74 men, 86 women) and 120 healthy controls (50 men, 70 women), respectively. Genotyping of IL-1Ra rs2234663 polymorphism was evaluated by gel electrophoresis after polymerase chain reaction (PCR). The IL-4 rs79071878 polymorphism was determined by PCR-based restriction fragment length polymorphism (PCR-RFLP) analysis. The results of analyses were evaluated for statistical significance.
Results:
There was no significant difference in IL-1Ra genotype and allele distributions between FMF and the control groups (p>0.05). However, a significant association was observed between FMF patients and control groups according to IL-4 genotype distribution (p=0.016), but no association was found in the allelic frequency of IL-4 between FMF patients and the controls (p>0.05, OR: 1.131, CI 95%: 0.71-1.81).
Conclusions:
The IL-4 rs79071878 polymorphism, was associated whereas the IL-1Ra rs2234663 polymorphism was not associated with FMF risk in the Turkish population. Larger studies with different ethnicities are needed to determine the impact of IL-1Ra and IL-4 polymorphism on the risk of developing FMF.
Insights
Interleukin-4 (IL-4) gene variations are linked to Familial Mediterranean Fever (FMF) risk in Turkish individuals, while Interleukin-1 receptor antagonist (IL-1Ra) gene variations are not. Further research is needed to confirm these findings across diverse populations.
Area of Science:
- Genetics
- Immunology
- Rheumatology
Background:
- Familial Mediterranean Fever (FMF) is an inherited autoinflammatory disorder.
- The MEFV gene encodes pyrin, crucial in the interleukin-1 (IL-1) inflammatory pathway.
- Genetic variations in inflammatory mediators may influence FMF susceptibility.
Purpose of the Study:
- To investigate the association between IL-1 receptor antagonist (IL-1Ra) and IL-4 gene polymorphisms and FMF risk.
- To analyze these associations specifically within the Turkish population.
Main Methods:
- Genotyping of IL-1Ra rs2234663 and IL-4 rs79071878 polymorphisms.
- Study included 160 FMF patients and 120 healthy controls from Turkey.
- Polymerase chain reaction (PCR) and related techniques (gel electrophoresis, PCR-RFLP) were used for genotyping.
Main Results:
- No significant association was found between IL-1Ra rs2234663 polymorphism and FMF risk.
- A significant association was observed for IL-4 rs79071878 genotype distribution in FMF patients compared to controls.
- No allelic association was found for IL-4 rs79071878 in FMF patients versus controls.
Conclusions:
- The IL-4 rs79071878 polymorphism is associated with FMF risk in the Turkish population.
- The IL-1Ra rs2234663 polymorphism shows no association with FMF risk in this cohort.
- Larger, multi-ethnic studies are recommended to elucidate the role of IL-1Ra and IL-4 polymorphisms in FMF pathogenesis.
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