The contribution of genotypes at the MICA gene triplet repeat polymorphisms and MEFV mutations to amyloidosis and course of the disease in the patients with familial Mediterranean fever

Türkçapar, Nuran; Tuncali, Timur; Kutlay, Sim; B, Burhan; Kınıklı, Gülay; Ertürk, Şehsuvar; Duman, Murat

doi:10.1007/s00296-006-0255-8

Cited by 25 publications

(21 citation statements)

References 30 publications

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“…The distributions of genotypes were similar to the Turkish population as reported in the literature, [5,6] and abdominal pain was the most frequent symptom of patients and supports previous studies. [1] This was true for all MEFV genotypes.…”

Section: Discussionsupporting

confidence: 89%

The Relationship between the MEFV Genotype, Clinical Features, and Cytokine-Inflammatory Activities in Patients with Familial Mediterranean Fever

et al. 2008

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Familial Mediterranean Fever (FMF) is an autosomal recessive disease characterized by periodic attacks of fever and polyserositis. The effects of the MEFV genotype differences on clinical picture and inflammatory activity have not been well documented. The aim of this study was to investigate levels of conventional inflammation markers, procalcitonin, interleukin levels, TNF-alpha, and C5a levels in patients with FMF who had different MEFV genotypes and compare them with those of healthy subjects. The study consisted of 41 patients with FMF (F/M: 23/18), and 31 healthy subjects (F/M: 18/13). Tests were performed during the attack-free period.White-blood cell count, CRP and IL-8 levels were higher in patients with FMF than in healthy subjects (p < 0.05) and also higher in M680I carriers than in the patients with M694V allele carriers. However, ESR, fibrinogen, procalcitonin, IL-6, C5a, TNF-alpha, and IgD levels were not significantly different between patients and healthy subjects (p > 0.05). Arthralgia or arthritis was significantly higher in M694V carriers than in non-M694V carriers (p < 0.05). It is concluded that the clinical features and inflammatory-cytokine activities were higher in patients with FMF during the attack-free period than in healthy subjects, and the different genotype might be related to different clinical pictures.

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Section: Discussionsupporting

confidence: 89%

The Relationship between the MEFV Genotype, Clinical Features, and Cytokine-Inflammatory Activities in Patients with Familial Mediterranean Fever

et al. 2008

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“…51 The effects of the major histocompatibility complex class I chain-related gene A (MICA) on the course of FMF have been studied, and no MICA allele was found to have any independent risk factor effect, 52 although one study suggested that the A5 allele had a protective effect against the development of amyloidosis in a subgroup of p.Met694Val homozygotes. 53 Another study found that the impact of p.Met694Val homozygosity on the age at disease onset was aggravated if patients also inherited MICA-A9, whereas the frequency of attacks was found to be dramatically reduced in patients with MICA-A4. The authors commented that these results clarify, at least partly, the inconsistent phenotype-MEFV correlation in FMF.…”

Section: Genotype-phenotype Correlationsmentioning

confidence: 99%

Familial Mediterranean fever—A review

Shohat

Halpern

2011

Genetics in Medicine

151

113

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“…Some of these alleles differ in their ability to bind to the NKG2D receptor (Steinle et al, 2001). Expression of certain alleles might contribute to inter-individual differences in susceptibility to certain diseases (Bravo et al, 2007;Turkcapar et al, 2007).…”

Section: Nkg2d Ligandsmentioning

confidence: 99%

NKG2D ligands in tumor immunity

2008

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The activating receptor NKG2D (natural-killer group 2, member D) and its ligands play an important role in the NK, cd þ and CD8 þ T-cell-mediated immune response to tumors. Ligands for NKG2D are rarely detectable on the surface of healthy cells and tissues, but are frequently expressed by tumor cell lines and in tumor tissues. It is evident that the expression levels of these ligands on target cells have to be tightly regulated to allow immune cell activation against tumors, but at the same time avoid destruction of healthy tissues. Importantly, it was recently discovered that another safeguard mechanism controlling activation via the receptor NKG2D exists. It was shown that NKG2D signaling is coupled to the IL-15 receptor pathway in a cell-specific manner suggesting that priming of NKG2D-mediated activation depends on the cellular microenvironment and the distinct cellular context. This review will provide a broad overview of our up-to-date knowledge of the NKG2D receptor and its ligands in the context of tumor immunology. Strategies to amplify NKG2D-mediated antitumor responses and counteract tumor immune escape mechanisms will be discussed.

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The contribution of genotypes at the MICA gene triplet repeat polymorphisms and MEFV mutations to amyloidosis and course of the disease in the patients with familial Mediterranean fever

Abstract: Though the effects of the MEFV genotypes seem clear, there are definitely other modifying factors or genes on the development of amyloidosis and on the course of the disease. For example, some MICA alleles have a protective effect on the prognostic factors in FMF.

Cited by 25 publications

References 30 publications

The Relationship between the MEFV Genotype, Clinical Features, and Cytokine-Inflammatory Activities in Patients with Familial Mediterranean Fever

The Relationship between the MEFV Genotype, Clinical Features, and Cytokine-Inflammatory Activities in Patients with Familial Mediterranean Fever

Familial Mediterranean fever—A review

NKG2D ligands in tumor immunity

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