Genetic and environmental factors are known to play a role in the pathogenesis of ankylosing spondylitis (AS) which is the most severe subgroup of patients of spondyloarthritis. Killer Cell Immunoglobulin-like receptors (KIR) are the molecules regulating the cytotoxic response of Naturel Killer (NK) cells. KIR genes have polymorphic structures and comprise a high difference between the populations. KIR genes have been shown to be associated with the pathogenesis of several autoimmune and inflammatory diseases.
Objectives
The relationship between the KIR genes and AS predisposition was already shown in previous studies in different populations. In this particular study, we aimed to assess the relationship of the KIR genes in the develepoment of AS in a group of Turkish patients.
Methods
Study includes 68 patients with AS (31 female, 37 male, mean age: 38.27) and 75 healthy subjects (34 women, 41 men, mean age: 38.6) as a control group. Typing of sixteen different KIR genes was performed by the method of Spesific Sequence Oligonucleotide Probes (SSOP). The distribution of KIR genotypes were obtained from the data base of “www.allelefrequencies.net”. The rates of the KIR genes of the both groups were found by direct counting method and the comparision of the groups is made by Fisher9s Exact test.
Results
The frame genes KIR2DL4, 3DL2, 3DL3 and the 3DP1 were present in all patients and controls. KIR3DS1 which is one of the activating KIR genes, was found to be significantly higher in the AS cases (39.7%) than that of the control group (16%) (p=0.002), (Figure 1). In addition, there was no significant difference between AA and Bx genotypes in the patient and control groups. In the meta-analysis published by Zuo and colleagues in 2014; seven different studies conducted in Iran, Chinese, Spanish, English, Russian and Polish populations between the years of 2009-2012 were examined and it was reported that several KIR genes such as KIR2DL1, KIR2DS4, KIR2DS5 and KIR3DS1 were found to be associated with AS susceptibility. This is the first study from Turkey about the relationship between AS and KIR genes. We found KIR3DS1 gene significantly higher in Turkish AS patients as similar to the results of this meta-analysis study.
Conclusions
These results show that KIR3DS1 gene activating NK cell cytotoxicity may trigger AS development and suggesting that it is related with the disease predisposition. Our result is compatible with other Caucasian populations.
References
Yu-Lian Jiao et al.: Polymorphisms of KIRs Gene and HLA-C Alleles in Patients with Ankylosing Spondylitis: Possible Association with Susceptibility to the Disease. J Clin Immunol (2008) 28:343–349 Hai-Ning Zuo et al.: Genetic variations in the KIR gene family may contribute to susceptibility to ankylosing spondylitis: a meta-analysis, Mol Biol Rep (2014) 41:5311–5319
Aim: The aim of the Melen Study was to investigate the cardiovascular risk profile of Turkish adults by utilizing newest techniques. Besides prevalence and types of endemic goiter will be established which was an important health problem in the Black sea region Method: The study was conducted on 2230 participants (1427 women, 803 men with a mean age of 49). The participants underwent a Doppler Ultrasound examination of carotid intima media thickness, echocardiographic examination, ECG recording, bioempedance meter analysis of body composition, pulmonary function test and various biochemical analysis. Result: Twenty nine percent of the population had hypertension, 12% had diabetes mellitus and 17% were smokers. Thyroid ultrasonography revealed that 29% of the cohort had goiter. Echocardiographic measurements showed that 39% of the participants had diastolic dysfunction. Comparison of males with females showed that men had significantly higher visceral fat, triglyceride, hemoglobin and CIMT whereas women had higher mean diastolic blood pressure, HDL and total cholesterol. Conclusion: According to the histories of patients, hypertension, diabetes mellitus and smoking were very frequent among Turkish adults. Among the objectively measured variables, diastolic dysfunction, visceral adiposity and goiter were strikingly high.
Objective: Mannose-binding lectin (MBL), which takes part in the lectin pathway of the complement system as a component of innate immunity, is activated by the stimulation of various bacterial lectins. It is known that some of the MBL gene polymorphisms (eg, codon 52, codon 54) that may lead to alterations in MBL serum levels are responsible for the susceptibility to infectious diseases and contribute to the pathogenesis of various autoimmune and inflammatory diseases. In this study, we planned to investigate the frequencies of codon 52 and codon 54 polymorphisms of the MBL gene in FMF patients and their association with the clinical features of the disease. Materials and Methods: MBL gene polymorphisms of the R52C C>T and G54D G>A were investigated by sequencing in 157 FMF patients and 150 unrelated healthy controls. MEFV gene mutations in FMF patients were investigated by sequencing method. The clinical characteristics of the patients and the C-reactive protein (CRP) values in attack-free phase were recorded. Statistical analysis of the findings was performed with the SPSS version 18.0. Results: The MBL gene R52C C>T polymorphism was detected in 12.7% of the patients and 10.6% of the controls. G54D G>A polymorphism was detected in 26.7% of the patients and 26.6% of the controls. There was no significant difference between the two groups (p=0.794). No significant correlations between MBL gene polymorphisms and various clinical characteristics of patients (amyloidosis, fever, colchicine response) were found. Mean CRP level of the FMF patients was 4.90±6.72 mg/dL. In FMF patients with elevated serum CRP levels (>0.8 mg/L), codon 54 MBL polymorphism frequency was 14.8%, codon 52 polymorphism frequency was 25.2%. Codon 52 and codon 54 polymorphism frequencies were not different between the groups according to CRP level (p>0.05). In FMF patients, significant correlations were found between M694V and amyloidosis (p=0.002) as well as between M694I and colchicine resistance (p=0.016). Conclusion: The absence of a relationship between MBL polymorphisms and high CRP levels in attack-free phase of FMF patients suggests that the proinflammatory state in some FMF patients is not related to MBL mediated mechanisms. In our cases, the significant relationship between M694I and colchicine resistance is remarkable. Our finding of the significant relationship between M694V and amyloidosis is consistent with previous literature and demonstrating the importance of M694V in disease severity and prognosis.
