Serum amyloid A1 and tumor necrosis factor-alpha alleles in Turkish Familial Mediterranean Fever patients with and without amyloidosis
Serum amyloid A1 and tumor necrosis factor-alpha alleles in Turkish Familial Mediterranean Fever patients with and without amyloidosis
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DOI：
10.3109/13506120308995251
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发表时间：
2003-03-01
影响因子：
5.5
通讯作者：
Çakar, N
中科院分区：
文献类型：
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作者：
Akar, N;Hasipek, M;Çakar, N
家族性地中海热（FMF）的主要并发症是AA型淀粉样变。FMF基因（MEFV）突变和/或未知环境因素和其他遗传修饰因子的影响可能会影响表型。疾病的变异和淀粉样变的发展。血清淀粉样蛋白A是AA淀粉样蛋白的血清前体，由包括tnf - α在内的炎症细胞因子诱导。我们对土耳其fmf -淀粉样变患者SAA1.1频率的分析显示，与非fmf -淀粉样变患者相比，SAA1.1频率更高，但差异不显著。另一方面，在fmf -淀粉样变性患者中SAA1.1纯合性分布为55.5%，而fmf -非淀粉样变性患者为30.8%，具有统计学意义，表明发生淀粉样变性的风险为2.5倍。在有或没有淀粉样变的FMF患者和对照组之间，tnf - α -308 G-A等位基因没有显著差异。值得注意的是，fmf -淀粉样变组中所有tnf - α -308 G-A携带者（n=6）的SAA1.1纯合性高于fmf -非淀粉样变组的2/11。进一步评价这些多态性可能具有重要意义，需要进一步研究。
The major complication of familial Mediterranean fever (FMF) is AA amyloidosis. The influence of FMF gene (MEFV) mutations and/or unknown environmental factors and other genetic modifiers are likely to affect the phenotypic. variations of the disease and the development of amyloidosis. Serum amyloid A is a serum precursor of AA amyloid that is induced by inflammatory cytokines including TNF-alpha. Our analysis of SAA1.1 frequency in Turkish FMF-amyloidosis patients, revealed a higher frequency compared to non FMF-amyloidosis patients but the difference was not significant. On the other hand, the distribution of SAA1.1 homozygosity among FMF-amyloidosis patients was 55.5 % compared to FMF-non-amyloidosis patients (30.8 %) which was statistically significant revealing a 2.5 fold risk for the occurrence of amyloidosis. There was no significant difference between the controls and FMF patients with and without amyloidosis for the TNF-alpha-308 G-A allele. It is worth noting that all TNF-alpha -308 G-A carriers (n=6) in FMF-amyloidosis group have SAA1.1 homozygosity compared to 2/11 in FMF-non-amyloidosis group. Further evaluation of these polymorphisms may have importance and need further study.