The role of IL-4 gene 70 bp VNTR and ACE gene I/D variants in Familial Mediterranean fever

• Published in: Cytokine (Philadelphia, Pa.) Pa.), 2014-05, Vol.67 (1), p.1-6
• Main Authors: Yigit, Serbülent, Tural, Sengul, Tekcan, Akın, Tasliyurt, Turker, Inanir, Ahmet, Uzunkaya, Süheyla, Kismali, Gorkem
• Format: Article
• Language: English
• Subjects: Adult; Cytoskeletal Proteins - genetics; Familial Mediterranean Fever - genetics; Female; Gene Frequency; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; Humans; Interleukin-4 - genetics; Male; Minisatellite Repeats - genetics; Mutation; Peptidyl-Dipeptidase A - genetics; Polymorphism, Single Nucleotide; Pyrin; Turkey
• ISSN: 1043-4666; 1096-0023
• DOI: 10.1016/j.cyto.2014.01.007

Familial Mediterranean fever (FMF) is characterized by recurrent attacks of fever and inflammation in the peritoneum, synovium, or pleura, accompanied by pain. It is an autosomal recessive disease caused by mutations in the MEFV (MEditerranean FeVer) gene. Patients with similar genotypes exhibit phenotypic diversity. As a result, the variations in different genes could be responsible for the clinical findings of this disease. In previous studies genes encoding Angiotensin-Converting Enzyme (ACE) and IL-4 (Interleukin-4) were found to be associated with rheumatologic and autoimmune diseases. In the present study we hypothesized whether ACE I/D or IL-4 70 bp variable tandem repeats (VNTR) genes are associated with FMF and its clinical findings in Turkish patients. Genomic DNA obtained from 670 persons (339 patients with FMF and 331 healthy controls) was used in the study. Genotypes for an ACE gene I/D polymorphism and IL-4 gene 70 bp VNTR were determined by polymerase chain reaction with specific primers. To our knowledge, this is the first study examining ACE gene I/D polymorphism and IL-4 gene 70 bp VNTR polymorphism in FMF patients. As a result, there was a statistically significant difference between the groups with respect to genotype distribution (p