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

IF 2.3 3区 生物学 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY
Djouher Ait-Idir, Bahia Djerdjouri, Khaled Latreche, Rawda Sari-Hamidou, Ghalia Khellaf
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引用次数: 0

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.

Abstract Image

预测阿尔及利亚家族性地中海热患者 AA 淀粉样变性的遗传风险因素。
肾淀粉样蛋白相关(AA)淀粉样变性是家族性地中海热(FMF)的一种有害并发症。其发生分别与血清淀粉样蛋白 A1(SAA1)和地中海热(MEFV)基因的多态性和突变有关。在阿尔及利亚,SAA1 变异与 FMF 相关淀粉样变性之间的关系尚未得到研究,因此本病例对照研究的目的就在于此。研究对象包括 60 名健康对照者和 60 名无亲属关系的 FMF 患者(39 人患有淀粉样变性病,21 人无淀粉样变性病)。通过聚合酶链式反应-限制性片段长度多态性(PCR-RFLP),对所有患者进行了 SAA1 等位基因(SAA1.1、SAA1.5 和 SAA1.3)的基因分型,并对其中一部分患者进行了 - 13 C/T 多态性的基因分型。基因型和等位基因频率的比较采用Chi-square和Fisher检验。与非淀粉样变性 FMF 患者(p = 0.001)和对照组(p = 0.001)相比,淀粉样变性 FMF 患者的 SAA1.1/1.1 基因型占优势。
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来源期刊
Molecular Genetics and Genomics
Molecular Genetics and Genomics 生物-生化与分子生物学
CiteScore
5.10
自引率
3.20%
发文量
134
审稿时长
1 months
期刊介绍: Molecular Genetics and Genomics (MGG) publishes peer-reviewed articles covering all areas of genetics and genomics. Any approach to the study of genes and genomes is considered, be it experimental, theoretical or synthetic. MGG publishes research on all organisms that is of broad interest to those working in the fields of genetics, genomics, biology, medicine and biotechnology. The journal investigates a broad range of topics, including these from recent issues: mechanisms for extending longevity in a variety of organisms; screening of yeast metal homeostasis genes involved in mitochondrial functions; molecular mapping of cultivar-specific avirulence genes in the rice blast fungus and more.
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