Int J Clin Exp Med 2016;9(7):14758-14761 www.ijcem.com /ISSN:1940-5901/IJCEM0026348 Original Article MEFV gene p.Met694Val variation is not associated with subacute thyroiditis in Turkish patients Nurdan Gül 1 , Özlem Soyluk 1 , Melda Sarıman 3 , Neslihan Abacı 3 , Sema Sırma-Ekmekçi 3 , Ferihan Aral 1 , Refk Tanakol 1 , Ahmet Gül 2 1 Division of Endocrinology and Metabolism, 2 Division of Rheumatology, Department of Internal Medicine, Istanbul Faculty of Medicine Istanbul, Turkey; 3 Department of Genetics, Institute for Experimental Medicine, Istanbul University, Istanbul, Turkey Received February 21, 2016; Accepted May 15, 2016; Epub July 15, 2016; Published July 30, 2016 Abstract: Subacute thyroiditis (SAT) is a self-limited, granulomatous infammatory thyroid disorder associated with neck pain and systemic infammatory fndings such as fever and acute phase response. Familial Mediterranean fever (FMF), an autosomal recessively inherited autoinfammatory disorder, is characterized by recurrent infamma- tory attacks in serosal and synovial tissues. Heterozygous carrier state is quite prevalent in Eastern Mediterranean countries, especially the most penetrant p.Met694Val variant, has been found to be a risk factor for other infam- matory disorders due to a tendency to higher IL-1 production. We herein aimed to investigate the possible role of p.Met694Val variant in the pathogenesis of subacute thyroiditis in Turkish patients, in which the prevalence of the variation in healthy individuals is around 3%. We genotyped 58 SAT patients with typical clinical and laboratory features, and we could not identify any individual with p.Met694Val variant among them. On the other hand, 7 het- erozygous individuals were found among healthy controls, who were matched to the study group according to the their birth places. Two of the patients were on anti-TNF agents for the treatment of rheumatoid arthritis and anky- losing spondylitis, and additional two patients, one with systemic lupus erythematosus and another with eosinoflic granulomatosis with polyangiitis (Churg-Strauss syndrome) were on immunosuppressive drugs. Additionally, an- other patient with ankylosing spondylitis was receiving sulphasalazine. In conclusion, we did not fnd an association between the MEFV gene p.Met694Val variant and subacute thyroiditis in Turkish patients, which may suggest no contribution of pyrin infammasome in the pathogenesis. Increased proportion of patients on immunosuppressive agents supports further the triggering role of infections, and investigations of genetic polymorphisms associated with infection susceptibility are warranted. Keywords: Subacute thyroiditis, familial Mediterranean fever, MEFV, interleukin-1 Introduction Subacute thyroiditis (SAT), also known as gran- ulomatous thyroiditis or de Quervain thyroiditis, is a self-limited, infammatory thyroid disorder associated with neck pain and systemic infam- matory fndings such as fever and acute phase response [1]. Mygind reported 18 cases of thy- roiditis in a previously normal gland without abscess formation for the frst time in 1895 and named the disorder as “thyroiditis akuta simplex” [2]. Later in 1904, a Swiss surgeon, Fritz de Quervain described the unique pathol- ogy of painful subacute thyroiditis [2]. The inci- dence of the disease is higher in women like many other thyroid disorders. Although mount- ing evidence suggests that SAT may be induced by viral infection in genetically predisposed indi- viduals, the exact pathogenesis of this disease is still not well understood [1, 3]. Genetic ten- dency has mainly been associated with class I HLA molecules, such as HLA-B35 and - B67 [4, 5], but no strong non-HLA variation associated with SAT has yet been described. Familial Mediterranean fever (FMF) is an autosomal recessively inherited autoinfammatory disor- der, which is characterized by recurrent infam- matory attacks in serosal and synovial tissues [6]. Variations of the MEFV gene encoding pyrin protein are responsible for the disease phenotype, and especially those affecting the C-terminal SPRY domain encoded by exon 10 are associated with deregulation of infamma- some and increased processing of interleukin-1