17 November 2015 : Clinical Research
Killer Cell Immunoglobulin-Like Receptor (KIR) Genotype Distribution in Familial Mediterranean Fever (FMF) PatientsErtugrul ErkenBDEF, Ozlem Goruroglu OzturkBCD, Ozlem KudasBD, Didem Arslan TasB, Ahmet DemirtasB, Filiz KibarD, Suzan DinkciB, Eren ErkenAF
Med Sci Monit 2015; 21:3547-3554
BACKGROUND: Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disease predominantly affecting Mediterranean populations. The gene associated with FMF is the MEFV gene, which encodes for a protein called pyrin. Mutations of pyrin lead to uncontrolled attacks of inflammation, and subclinical inflammation continues during attack-free intervals. Killer cell immunoglobulin-like receptor (KIR) genes encode HLA class I receptors expressed by NK cells. The aim this study was to look for immunogenetic determinants in the pathogenesis of FMF and find out if KIR are related to susceptibility to disease or complications like renal amyloidosis.
MATERIAL AND METHODS: One hundred and five patients with FMF and 100 healthy individuals were involved in the study. Isolated DNA from peripheral blood was amplified by sequence specific PCR probes and analyzed by Luminex for KIR genotypes. Fisher Exact test was used to evaluate the variation of KIR gene distribution.
RESULTS: All patients and healthy controls expressed the framework genes. An activator KIR gene, KIR2DS2, was significantly more frequent in FMF patients (p=0.036). Renal amyloidosis and presence of arthritis were not associated with KIR genes and genotype. KIR3DL1 gene was more common in patients with high serum CRP (p=0.016).
CONCLUSIONS: According to our findings, we suggest that presence of KIR2DS2, which is an activator gene for NK cell functions, might be related to the autoinflammation in FMF. The potential effect of KIR genes on amyloidosis and other clinical features requires studies with larger sample sizes.
Keywords: Case-Control Studies, Amyloidosis - genetics, Cytoskeletal Proteins - immunology, Familial Mediterranean Fever - pathology, Genetic Association Studies, Genotype, Immunogenetics, Immunoglobulins - immunology, Killer Cells, Natural - pathology, Mutation, Polymorphism, Genetic, Receptors, KIR - immunology
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