AB0003 Investigation of tnfrsf1a (tumor necrosis factor receptor superfamily, member 1a) gene polymorphisms in behçet’s disease
Authors: E. Erken, D. Arslan Tas, F. Yildiz, S. Dinkci
Journal: Annals of the Rheumatic Diseases (2013)

<h3>Background</h3> Behçet’s disease (BD) shares many similar clinic features with periodic fever syndromes. For this reason, it could be suggested that they may also share similar etiopathogenetic factors such as genetics. <h3>Objectives</h3> We planned to study whether TNFRSF1A (which is responsible from the etiology of TRAPS) gene polymorphisms are involved in the pathogenesis of Behçet’s disease and also it’s relations to the severity and clinical findings such as oral aphthae, genital ulcers, skin lesions, uveitis, arthritis, gastrointestinal involvement, neuroBehçet, vascular involvement. <h3>Methods</h3> Fifty BD (29 males and 21 females with a mean age of 37,9±38,0 years) patients and 47 (26 males and 21 females with a mean age of 33,9±12,3 years) non-consanguineous, apparently healthy subjects of Turkish origin were included. Demographic and clinical data and severity score of Behçet disease were evaluated. Genotyping of TNFRSF1A gene of the groups was performed for exons: 2,3,4,5,6,7 and introns: 2-3, 4-5 and 6-7 by polymerase chain reaction/sequence based typing technique. <h3>Results</h3> Patergy positivity was 46 % and HLAB5 positivity was 40 %, ESR: 15,3±12,5 mm/h, CRP: 1,06±1,8 mg/dl (N:0-0,8) in the BD group and the Behçet disease severity index was 6,8±2,4. When both groups were evaluated for the TNFRSF1A gene mutations, two patients in the BD group and one participant in the control group bore mutations that were previously reported to be symptomatic. The first BD patient was heterozygous for c.626-32 G&gt;T: a 39-year-old male presenting with oral aphthae, genital ulcers, uveitis, positive for HLAB5. He was suffering from periodic fever accompanying papulopustular skin lesions lasting for 6-7 days and occuring every 2-3 months but revealed no abdominal pain. The second patient, a 44 year-old male presenting with oral aphthae, genital ulcers, bilateral loss of vision (one due to uveitis and one due to trauma), deep venous thrombosis, papulopustular skin lesions, was negative for HLAB5. He was heterozygous for R92Q G&gt;A which was accused for increased venous thrombosis previously. He never had attacks of fever, abdominal pain or myalgia. Pereviously, R92Q was reported to be a low penetrance mutation rather than a benign polymorphism. Control subject a 27-year-old woman was heterozygous for c.626-32 G&gt;T. She never experienced attacks of recurrent abdominal pain, fever and myalgia. <h3>Conclusions</h3> Our results may suggest that, TNFRSF1A gene mutations are not involved in the etiopathogenesis of Behçet’s disease and also may be commented that, these mutations do not affect the disease course and severity in Behçet’s disease as found previously in several studies. Further studies in different ethnic groups are needed to clarify this issue. <h3>References</h3> - Amoura Z, Dodé C, Hue S, Caillat-Zucman S, Bahram S, Delpech M, Grateau G, Wechsler B, Piette JC. Association of the R92Q TNFRSF1A mutation and extracranial deep vein thrombosis in patients with Behçet’s disease. Arthritis Rheum. 2005;52(2):608-11. - Baruch Y, Dagan E, Rosner I, Fiorilli M, Gershoni-Baruch R, Rozenbaum M. MEFV, TNFRSF1A and CARD15 mutation analysis in Behçet’s disease. Clin Exp Rheumatol. 2011; 29(4 Suppl 67):p. 24-7. <h3>Disclosure of Interest</h3> None Declared