Research Article

Association Analysis of IL-4 VNTR Polymorphism with Rheumatoid Arthritis in Iranian Patients

Abbas Beh-Pajooh, Mahdi Fasihi-Ramandi, Mahmoud Tavallaie

Abbas Beh-Pajooh
Genetic Research Center, Baqiyatallah University of Medical Sciences

Mahdi Fasihi-Ramandi
Molecular Biology Research Center, Baqiyatallah University of Medical Sciences, Tehran, Iran

Mahmoud Tavallaie
Genetic Research Center, Baqiyatallah University of Medical Sciences. Email:
Online First: October 16, 2016 | Cite this Article
Beh-Pajooh, A., Fasihi-Ramandi, M., Tavallaie, M. 2016. Association Analysis of IL-4 VNTR Polymorphism with Rheumatoid Arthritis in Iranian Patients. Journal of Genes and Cells 2(3-4): 27-31. DOI:10.15562/gnc.35

Rheumatoid arthritis (RA) is characterized by movement disability and pain in the joints. This disease makes the body susceptible to other subsequent diseases, making the condition worse. To find out the underlying genetic diversity of this disease at the genomic level in an Iranian population, we carried out an investigation in the VNTR of IL-4 within its third intron. For this goal we isolated the genomic DNA from blood samples of 576 Rheumatoid arthritis patients and 546 healthy controls and investigated the presence or absence of specific amplicons via polymerase chain reaction (PCR). The size of each amplicon on a 1.5% agarose gel corresponded to a certain number of tandem repeats which indicated a specific allele. Statistical test of 𝜒2 Fisher’s exact test and odds ratio (OR) was used to analyze the data. The results showed that RA1/RA1 genotype was the dominant genotype in both healthy controls and patients and the heterozygote genotype of RA1/RA2 was observed more in the healthy controls than patients (108 vs 66) with significant difference of P value < 0.005 and odds ratio of 5.582. However two genotypes of RA2/RA2 and RA2/RA3 were exclusively observed in the patients’ samples with P value= 0.023 and odds ratio of  0.988. We concluded that IL-4 VNTR polymorphism might have a strong association with rheumatoid arthritis and might be a high risk factor for development of Rheumatoid arthritis in the investigated Iranian population.



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