Proinflammatory cytokines with immunosuppressive properties play an important role in the pathogenesis of multiple sclerosis (MS). Interleukin 18 (IL-18) is one of the most important innate cytokines produced from macrophages in the early stages of the inflammatory immune response. The purpose of this study was to determine whether there was any relationship between IL18 gene polymorphisms and MS. IL18 genotyping were performed in 101 MS patients and 164 control subjects by using the PCR-restriction fragment length polymorphism (PCR-RFLP) method. The frequency of MS patients with the CC genotype of the IL18 gene at position -137 was significantly higher than with the GG genotype [p = 0.01, odds ratio (OR) 3.17]. In haplotype analysis of two SNPs in the IL18 gene, frequency of the CC haplotype was significantly higher in MS patients (p = 0.002, OR 3.0). However, the genotype distribution of the IL18 -607 C/A polymorphism in the MS patient group was not significantly different from that of the control group. These data suggest that IL18 gene polymorphisms at position -137 might be a genetic risk factor for MS in the Turkish population.
Purpose: Behçet's disease is a multisystem disease characterized by recurrent oral and genital ulcers, relapsing uveitis, mucocutaneous, articular, gastrointestinal, neurologic, and vascular manifestations. Paraoxonase is believed to play an important role in protection of LDL and HDL particles from oxidation, in antioxidant effect against lipid peroxidation on cellular membranes, and in anti-inflammatory process. Lipid peroxidation and free oxygen radicals have been thought to play a role in pathogenesis of BD. The association of paraoxonase gene polymorphisms with Behçet's Disease in a group of Turkish patients with clinical manifestations and healthy controls has been investigated. Patients and Methods: Paraoxonase (PON-1-L55M) gene polymorphism was investigated in 50 Behcet patients and 50 healthy individuals with a PCR/RFLP method. Results: There were significant differences between patients and the control group in allele frequencies of the PON1 L55M polymorphism (p=0.04). Also, when patients were compared with the control group according to clinical manifestations, this statistical significance was getting sharper. Compared with the PON55 L allele, the M allele was associated with greater than 3.5 fold (OR 3.5, 95% CI 1.3-8.9) increased risk of ocular (OR 2.4, 95% CI 1.1-5.3), 2.4 fold joint and 3.1 fold (OR 3.1, 95% CI 1.1-8.4) central nervous system manifestations of BD. Conclusion The PON L55M gene polymorphism seemed to play a role in the pathogenesis of BD.
Psoriasis; sık rastlanan, deri ile birlikte eklemleri de etkileyebilen, kronik ve tekrarlayıcı bir hastalıktır. Psoriasisin etiyopatogenezi tam olarak açıklanamamış olsa da en çok desteklenen mekanizma, herhangi bir etkenle tetiklenen inflamasyondur. Son yıllarda tanımlanan toll benzeri reseptör (TLR) ailesinin oldukça geniş çeşitlilikteki patojenlere karşı konakçı bağışıklığında kritik bir rol oynadığı bilinmektedir. Çalışmamızda, bu hasta grubunda bazı TLR gen polimorfizmlerinin, psoriasis ile olan muhtemel ilişkilerinin ortaya konmasını amaçladık. Yöntemler: Psoriasis tanısı almış 100 hasta ile otoimmün veya inflamatuvar hastalığı olmadığı bilinen 173 hasta içeren sağlıklı kontrol grubu çalışmaya dahil edilmiş olup TLR2 geni Arg677Trp, Arg753Gln,-196-174 del ve TLR4 geni Asp299Gly, Thr399Ile polimorfizmleri polimeraz zincir reaksiyonu-restriksiyon parça uzunluk polimorfizmi yöntemi ile belirlenmiş, hasta ve kontrol grubu sözü edilen gen polimorfizmleri açısından karşılaştırılmıştır. Bulgular: Bu çalışma ile psoriasisin, TLR2 Arg753Gln polimorfizminde GA genotipi ve A aleli ile istatistiksel olarak anlamlı bir ilişkide olduğu saptanmıştır. Ayrıca-196-174 del gen polimorfizmi için hasta ve kontrol grubu karşılaştırıldığında, ins/del genotipine sahip olmanın koruyucu etki yaptığı belirlenmiştir. Sonuç: TLR2 genindeki varyant alellerin, psoriasisin moleküler etiyopatogenezinde önemli rolü olabileceğini düşünmekteyiz.
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