Browsing by Author "Djerdjouri, Bahia"

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Differential mutational profiles of familial Mediterranean fever in North Africa
(Wiley, 2020) Ait-Idir, Djouher; Djerdjouri, Bahia
Familial Mediterranean fever (FMF) is a recessive autoinflammatory disease, mainly occurring in the eastern Mediterranean. In these populations, the five FMF founder mutations are differently distributed. In Algeria, the FMF‐causing variants remain poorly explored. This retrospective study aims to report the mutational profile of Algerian FMF patients and to compare it with North African FMF patients. One hundred eighty‐three unrelated patients clinically suspected of FMF were recruited from various Algerian hospitals (2007–2015) and tested for mutations in exon 10 of MEFV gene. Molecular analysis identified 144 mutant alleles among 87 of 183 patients (47.5%). p.M694I was the most prevalent pathogenic allele, accounting for 63.2% of mutant alleles, followed by p.M694V and p.M680I occurring with a same frequency (14.5%). Others, p.A744S (6.2%) and p.I692del (1.3%), are less frequent. Interestingly, p.M694I was the most recurrent in patients with renal AA‐amyloidosis. Our results provide the first genetic data on FMF in Algeria, demonstrating the predominance of p.M694I and the absence of p.V726A, compared to other North African countries (Morocco, Tunisia, and Egypt). In conclusion, North African FMF patients display differential mutational profiles that may result from the difference in ethnic origin and the genetic heterogeneity among these populations
The M694I/M694I genotype : a genetic risk factor of AA-amyloidosis in a group of Algerian patients with familial mediterranean fever
(Elsevier, 2017) Ait-Idir, Djouher; Djerdjouri, Bahia; Bouldjennet, Faiza; Taha, Rowaida Z.; El-Shanti, Hatem; Sari-Hamidou, Rawda; Khellaf, Ghalia; Benmansour, Mustapha; Benabadji, Mohamed; Haddoum, Farid
Predicting genetic risk factors for AA amyloidosis in Algerian patients with familial Mediterranean fever
(Springer Nature, 2024) Ait-Idir, Djouher; Djerdjouri, Bahia; Latreche, Khaled; Sari-Hamidou, Rawda; Khellaf, Ghalia
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.