Abstract：
Renal amyloid-associated (AA) amyloidosis is a harmful complication of familial Mediterranean fever (FMF). Its occurrence involves polymorphisms and mutations in the Serum Amyloid A1 (SAA1) and Mediterranean Fever (MEFV) genes, respectively. In Algeria, the association between SAA1 variants and FMF-related amyloidosis was not investigated, hence the aim of this case-control study. It included 60 healthy controls and 60 unrelated FMF patients (39 with amyloidosis, and 21 without amyloidosis). All were genotyped for the SAA1 alleles (SAA1.1, SAA1.5, and SAA1.3), and a subset of them for the - 13 C/T polymorphism by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Comparisons between genotype and allele frequencies were performed using Chi-square and Fisher tests. The SAA1.1/1.1 genotype was predominant in amyloid FMF patients, compared to non-amyloid FMF patients (p = 0.001) and controls (p < 0.0001). SAA1.1/1.5 was higher in non-amyloid patients (p = 0.0069) and in controls (p = 0.0082) than in patients with amyloidosis. Bivariate logistic regression revealed an increased risk of AA amyloidosis with three genotypes, SAA1.1/1.1 [odds ratio 7.589 (OR); 95% confidence interval (CI): 2.130-27.041] (p = 0.0018), SAA1.1/1.3 [OR 5.700; 95% CI: 1.435-22.644] (p = 0.0134), and M694I/M694I [OR 4.6; 95% CI: 1.400-15.117] (p = 0.0119). The SAA1.1/1.5 genotype [OR 0.152; 95% CI: 0.040-0.587] (p = 0.0062) was protective against amyloidosis. In all groups, the - 13 C/C genotype predominated, and was not related to renal complication [OR 0.88; 95% CI: 0.07-10.43] (p = 0.915). In conclusion, in contrast to the - 13 C/T polymorphism, the SAA1.1/1.1, SAA1.1/1.3 and M694I/M694I genotypes may increase the risk of developing renal AA amyloidosis in the Algerian population.
摘要：
肾淀粉样蛋白相关（AA）淀粉样变性是家族性地中海热（FMF）的有害并发症。它的发生涉及血清淀粉样蛋白A1（SAA1）和地中海热（MEFV）基因的多态性和突变，分别。在阿尔及利亚,SAA1变异体与FMF相关淀粉样变性之间的关联没有研究，因此，本病例对照研究的目的。它包括60名健康对照和60名无关的FMF患者(39名患有淀粉样变性，和21无淀粉样变性)。所有的基因分型为SAA1等位基因（SAA1.1，SAA1.5和SAA1.3），通过使用聚合酶链反应-限制性片段长度多态性（PCR-RFLP），其中的一个子集用于-13C/T多态性。使用卡方和Fisher检验进行基因型和等位基因频率之间的比较。SAA1.1/1.1基因型在淀粉样蛋白FMF患者中占主导地位，与非淀粉样蛋白FMF患者（p=0.001）和对照组（p<0.0001）相比。非淀粉样蛋白患者（p=0.0069）和对照组（p=0.0082）的SAA1.1/1.5高于淀粉样变性患者。双变量logistic回归显示三种基因型的AA淀粉样变性风险增加，SAA1.1/1.1[赔率比7.589（OR）；95％置信区间（CI）：2.130-27.041]（p=0.0018），SAA1.1/1.3[OR5.700；95%CI：1.435-22.644]（p=0.0134），和M694I/M694I[OR4.6；95%CI：1.400-15.117]（p=0.0119）。SAA1.1/1.5基因型[OR0.152;95％CI：0.040-0.587]（p=0.0062）对淀粉样变具有保护作用。在所有组中,-13C/C基因型占主导地位，与肾脏并发症无关[OR0.88;95％CI：0.07-10.43]（p=0.915）。总之,与-13C/T多态性相反，SAA1.1/1.1,SAA1.1/1.3和M694I/M694I基因型可能会增加阿尔及利亚人群发生肾AA淀粉样变性的风险.
