Predicting genetic risk factors for AA amyloidosis in Algerian patients with familial Mediterranean fever

被引:0
作者
Ait-Idir, Djouher [1 ]
Djerdjouri, Bahia [2 ]
Latreche, Khaled [3 ,4 ]
Sari-Hamidou, Rawda [5 ,6 ]
Khellaf, Ghalia [7 ,8 ]
机构
[1] MHamed Bougara Univ, Fac Sci, Dept Biol, Res Lab, Boumerdes, Algeria
[2] Univ Sci & Technol Houari Boumediene, Fac Biol Sci, Tamayouz Lab Cellular & Mol Biol, Algiers, Algeria
[3] MHamed Bougara Univ, Fac Sci, Dept Biol, Boumerdes, Algeria
[4] Univ Sci & Technol Houari Boumediene, Fac Biol Sci, Res Lab Arid Reg, Algiers, Algeria
[5] Tidjani Damerdji Univ Hosp, Dept Nephrol, Tilimsen, Algeria
[6] Abou Bekr Belkaid Tlemcen Univ, Fac Med, Res Lab Toxicomed, Fac Med, Tilimsen, Algeria
[7] Benyoucef Benkheda Algiers 1 Univ, Fac Med, Algiers, Algeria
[8] Mohamed Lamine Debaghine Univ Hosp, Dept Nephrol, Algiers, Algeria
关键词
AA amyloidosis; Familial mediterranean fever; Kidneys; MEFV gene; SAA1 gene polymorphisms; MEFV; SAA1; GENOTYPE; EXPRESSION; MUTATIONS; SECONDARY; DISEASE; FMF; INFLAMMASOME; RECEPTOR;
D O I
10.1007/s00438-024-02133-6
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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.
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页数:10
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