Journal article
The M694I/M694I genotype: A genetic risk factor of AA-amyloidosis in a group of Algerian patients with familial Mediterranean fever
European journal of medical genetics, Vol.60(3), pp.149-153
03/01/2017
DOI: 10.1016/j.ejmg.2016.12.003
PMID: 27956278
Abstract
Familial Mediterranean fever (FMF, OMIM 249100) is the most common hereditary fever, resulting from mutations in MEFV. FMF is characterized by episodic febrile attacks and polyserositis. Renal AA-amyloidosis is a major complication, which often leads to end- stage renal disease in untreated patients. The data about the renal AA-amyloidosis secondary to FMF are scarce in North African countries and non-existent in Algeria. We aimed to investigate the MEFV mutations associated with this complication in an Algerian patient cohort. Molecular analysis included 28 unrelated Algerian FMF patients with ascertained amyloidosis, 23 of them were symptomatic and 5 were asymptomatic. For this study, a group of 20 FMF patients without renal amyloidosis were selected as controls according to their age, disease onset and disease duration. The mutations were detected by sequencing exon 10 of MEFV. A total of 87.5% (49/56) mutant alleles were identified in 27/28 analyzed patients; p.M694I was predominant and appeared with an allele frequency of 62.5%, followed by p.M694V (17.85%), p.M680I (5.35%) and p.I692Del (1.78%). Remarkably, only p.M694I mutation was observed among the asymptomatic patients. The M694I/M694I genotype, identified in 14/27 (52%) patients, was significantly associated with the development of amyloidosis compared to group of controls (p = 0.022). This study did not link the M694V/M694V genotype to the renal complication despite the fact that it has been observed only in the patients with amyloidosis (3/27; 11%) (p = 0.349). The association of other identified genotypes to this complication was statistically insignificant. The progression of amyloidosis led to end- stage renal disease in 14 patients with 6 deaths. This study shows that p.M694I homozygosity is a potential genetic risk factor for the development of renal AA-amyloidosis in Algerian FMF patients. (C) 2016 Elsevier Masson SAS. All rights reserved.
Details
- Title: Subtitle
- The M694I/M694I genotype: A genetic risk factor of AA-amyloidosis in a group of Algerian patients with familial Mediterranean fever
- Creators
- Djouher Ait-Idir - University of Sciences and Technology Houari BoumedieneBahia Djerdjouri - University of Sciences and Technology Houari BoumedieneFaiza Bouldjennet - University of BoumerdesRowaida Z. Taha - Qatar Biomedical Research InstituteHatem El-Shanti - University of IowaRawda Sari-Hamidou - Service de Néphrologie-Hémodialyse, Centre Hospitalo-Universitaire, Tlemcen, Algeria.Ghalia Khellaf - Service de Néphrologie Dialyses et Transplantation Rénale, Centre Hospitalo-Universitaire, Beni-Messous, Alger, Algeria.Mustapha Benmansour - Service de Néphrologie-Hémodialyse, Centre Hospitalo-Universitaire, Tlemcen, Algeria.Mohamed Benabadji - Service de Néphrologie Dialyses et Transplantation Rénale, Centre Hospitalo-Universitaire, Beni-Messous, Alger, Algeria.Farid Haddoum - Service de Néphrologie-Transplantation, Centre Hospitalo-Universitaire Mustapha, Algeria.
- Resource Type
- Journal article
- Publication Details
- European journal of medical genetics, Vol.60(3), pp.149-153
- Publisher
- Elsevier
- DOI
- 10.1016/j.ejmg.2016.12.003
- PMID
- 27956278
- ISSN
- 1769-7212
- eISSN
- 1878-0849
- Number of pages
- 5
- Language
- English
- Date published
- 03/01/2017
- Academic Unit
- Stead Family Department of Pediatrics; Medical Genetics and Genomics
- Record Identifier
- 9984354118602771
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