Logo Medical Science Monitor

Call: +1.631.470.9640
Mon - Fri 10:00 am - 02:00 pm EST

Contact Us

Logo Medical Science Monitor Logo Medical Science Monitor Logo Medical Science Monitor

17 November 2015 : Clinical Research  

Killer Cell Immunoglobulin-Like Receptor (KIR) Genotype Distribution in Familial Mediterranean Fever (FMF) Patients

Ertugrul ErkenBDEF, Ozlem Goruroglu OzturkBCD, Ozlem KudasBD, Didem Arslan TasB, Ahmet DemirtasB, Filiz KibarD, Suzan DinkciB, Eren ErkenAF

DOI: 10.12659/MSM.895211

Med Sci Monit 2015; 21:3547-3554

Abstract

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

Add Comment 0 Comments

Editorial

01 December 2024 : Editorial  

Editorial: The 2024 Revision of the Declaration of Helsinki and its Continued Role as a Code of Ethics to Guide Medical Research

Dinah V. Parums

DOI: 10.12659/MSM.947428

Med Sci Monit 2024; 30:e947428

0:00

In Press

Clinical Research  

Shiga Toxin-Producing E. coli and Hemolytic Uremic Syndrome: A Study of the 2022 Outbreak in Turkey

Med Sci Monit In Press; DOI: 10.12659/MSM.946033  

Clinical Research  

Evaluating Lipiodol Efficacy in Proximal Tubal Occlusion Treatment: Single-Center Experience and Literature...

Med Sci Monit In Press; DOI: 10.12659/MSM.946266  

Review article  

Impact of Traditional Chinese Medicine Antioxidants on Oxidative Stress and Drug-Induced Liver Injury: A Re...

Med Sci Monit In Press; DOI: 10.12659/MSM.945147  

Meta-Analysis  

Reliability of Extraoral Scanners in Capturing 3D Geometry for Dental Prostheses: A Systematic Review

Med Sci Monit In Press; DOI: 10.12659/MSM.946470  

Most Viewed Current Articles

17 Jan 2024 : Review article   6,956,909

Vaccination Guidelines for Pregnant Women: Addressing COVID-19 and the Omicron Variant

DOI :10.12659/MSM.942799

Med Sci Monit 2024; 30:e942799

0:00

14 Dec 2022 : Clinical Research   1,969,236

Prevalence and Variability of Allergen-Specific Immunoglobulin E in Patients with Elevated Tryptase Levels

DOI :10.12659/MSM.937990

Med Sci Monit 2022; 28:e937990

0:00

16 May 2023 : Clinical Research   696,965

Electrophysiological Testing for an Auditory Processing Disorder and Reading Performance in 54 School Stude...

DOI :10.12659/MSM.940387

Med Sci Monit 2023; 29:e940387

0:00

07 Jan 2022 : Meta-Analysis   263,014

Efficacy and Safety of Light Therapy as a Home Treatment for Motor and Non-Motor Symptoms of Parkinson Dise...

DOI :10.12659/MSM.935074

Med Sci Monit 2022; 28:e935074

Your Privacy

We use cookies to ensure the functionality of our website, to personalize content and advertising, to provide social media features, and to analyze our traffic. If you allow us to do so, we also inform our social media, advertising and analysis partners about your use of our website, You can decise for yourself which categories you you want to deny or allow. Please note that based on your settings not all functionalities of the site are available. View our privacy policy.

Medical Science Monitor eISSN: 1643-3750
Medical Science Monitor eISSN: 1643-3750