Background/Purpose: Sarcoidosis is a chronic granulomatous disease. Pyrin, is encoded by the MEFV gene and has anti-inflammatory effects in the inflammasoma regulation. MEFV gene mutations affects the  inflammatory cascade and cause familial Mediterranean fever. The relationship between different rheumatic diseases and MEFV gene mutations are shown in previous studies. Aim:The aim of this study was to determine the MEFV gene prevalence in Turkish patients with sarcoidosis and to determine the possible correlation between the occurrence of mutations and disease phenotype.

Methods: Seventy-eight sarcoidosis patients and age, gender and ethnicity compatible 85 healthy controls were included in the study. The most common eight MEFV gene mutations were investigated by PCR method. 

Results: Among seventy-eight sarcoidosis patients MEFV gene mutation was detected in nine patients(%11.5). The distribution of the nine mutations; three (3.8%) V726A, two (2.5%) E148Q, two (2.5%) M680, a (1.3%) A744S, one (1.3%) of K695, respectively. None of the  sarcoidosis patients were M694V, M694I, R761H and P369S and compound heterozygous carriers (Table 1). MEFV gene mutations frequency in the healthy control group was found to be 22.4%.The distribution of  MEFV gene mutations in the healthy control were; E148Q 9 (10.6%), M694V 2 (2.3%), M694I 1 (1.2%), M680 1 (1.2%), V726A 2 (2.3%), A744S1 (1.2%), K695 2 (2.3%), P369S1 (1.2%), respectively, Compared with the control group, a lower carrier frequency of MEFV gene mutations were detected in patients with sarcoidosis, but it was not statistically significant(p=0.067). In the sarcoidosis group, while serum ESR and CRP levels were  significantly higher in the mutation carrier group than those of the non-carrier group (p=0.01,p=0.04). In the sarcoidosis group, while arthritis,enthesitis and ankle arthritis  were  significantly more frequent in the mutation carrier group than those of the non-carrier group (p=0.028, p=0.05, p=0.05 respectively). 

Conclusion:

In Turkish patients with sarcoidosis, we found a lower frequency of MEFV gene mutations compared with healthy control group. Sarcoidosis mutation carrier group were found to be associated with high serum acute phase response , arthritis and enthesitis. The presence of MEFV gene mutation may have a protective role for the development of sarcoidosis. Prospective studies with large patient series are need on this subject.

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ACR Meeting Abstracts - https://acrabstracts.org/abstract/prevalence-and-significance-of-mefv-gene-mutations-in-patients-with-sarcoidosis/