Related Experiment Video
Updated: Jun 4, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Interleukin-4 gene polymorphisms confer Behçet's disease in Turkish population
H B Oral1, K Dilek, A A Özçimen
1Department of Medical Microbiology, Immunology Unit, Uludag University Faculty of Medicine, Bursa, Turkey. oralb@uludag.edu.tr
Abstract:
Several cytokine genes may play crucial roles in host susceptibility to Behçet's Disease (BD), because the cytokine production capacity varies among individuals and depends on the cytokine gene polymorphisms. The association of the IL-4 and IL-4Rα gene polymorphisms with the susceptibility to BD was investigated in this study. DNA samples were obtained from a Turkish population of 97 patients with BD and 76 healthy control subjects. All genotyping (IL-4 and IL-4Rα) experiments were performed using PCR sequence-specific primers. When compared with the healthy controls, the frequency of IL-4 -1098 TG and -590 CT genotypes was higher in the patients with BD. Analysis of allele frequencies showed that IL-4 -1098 G and IL-4 -590 T alleles were more common in the patients with BD when compared with healthy controls. Also, IL-4 TTC and haplotypes were found to confer BD. Interestingly, we demonstrated that IL-4Rα gene polymorphism seems to be associated with the Pathergy test positivity in patients with BD. Our data suggest that IL-4 gene promoter polymorphisms may affect susceptibility to BD and increase risk of developing the disease. However, in order to confirm and assess the association of IL-4 and IL-4Rα gene polymorphisms with the BD, large cohort studies are needed.
Related Concept Videos
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Inflammatory Bowel Disease III: Crohn's Disease
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase
Drugs for Treatment of Crohn's Disease in IBD Using Biologic Agents: Anti-TNF
Inflammatory Bowel Disease IV: Pharmacological Management
Pharmacologic...
