Association of TLR4 gene polymorphisms (Asp299Gly, Thr399Ile) and the severity of clinical symptoms of Familial Mediterranean fever in population of north-west of Iran

Familial Mediterranean Fever (FMF) is an autosomal recessive auto-inflammatory disorder which is caused by mutations of the responsible gene (MEFV). The disease characterized by recurrent self-limited attacks of fever with peritonitis, pleuritis, arthritis, myalgia, erysipelas-like skin lesions and amyloidosis. Toll-like receptors (TLRs) are involved in the activation ofan innate immune system. TLR-4(Asp299Gly and Thre399Ile) polymorphisms down-regulate inflammation. Weinvestigated the effect of these polymorphisms on the development or resistance of clinical symptoms severity in FMFpatients. In this study we investigated 86 FMF patients contain two groups (with and without) of clinical symptoms. TLR-4(Asp299Gly and Thr399Ile) polymorphisms were analyzed with the polymerase chain reaction restriction fragment length polymorphism method (PCR-RFLP). A significant association between two groups of patients with/without some clinical symptoms like fever, Peritonitis, Myalgia and Eriseplemya were observed (P value ˂ 0.05). Previous studies in the otherpopulations suggest the association between TLR-4(Asp299Gly and Thr399Ile) polymorphisms and severity of FMF; alsoour data showed an association between these polymorphisms and severity of some clinical symptoms of FMF patients in north-west of Iran and demonstrated the role of A and C alleles in the severity of inflammation in FMF patients with M694V homozygous mutation in this cohort

کلیدواژه ها:

Familial Mediterranean fever ، MEFV ، TLR4