Serum Amyloid A Type 1 Gene Polymorphism in Egyptian Children with Familial Mediterranean Fever

Autor:	Hala Lotfy Fayed, Manal Wilson, Huda Marzouk, Amany A. Abou-Elalla, Mariam Onsy F. Hanna, Mervat Talaat Zakaria
Rok vydání:	2016
Předmět:	Male 0301 basic medicine Genotype Familial Mediterranean fever Inflammation Polymorphism Single Nucleotide Pathology and Forensic Medicine 03 medical and health sciences 0302 clinical medicine Gene Frequency medicine Humans Genetic Predisposition to Disease Serum amyloid A Allele Child Molecular Biology Allele frequency Alleles Serum Amyloid A Protein 030203 arthritis & rheumatology business.industry Cell Biology General Medicine medicine.disease Familial Mediterranean Fever Phenotype 030104 developmental biology Case-Control Studies Child Preschool Mutation Immunology Egypt Female Disease Susceptibility Gene polymorphism medicine.symptom business
Zdroj:	Pathobiology. 83:295-300
ISSN:	1423-0291 1015-2008
Popis:	Background: Since spontaneous inflammation is an important contributor to familial Mediterranean fever (FMF), genetic variants mediating inflammation are of interest. We investigated gene variants in the acute-phase serum amyloid A type 1 (SAA1), a sensitive marker of inflammatory activity, and their association with susceptibility and severity of FMF. Methods: The genotypes of 2 single-nucleotide polymorphisms within exon 3 of SAA1 (2995C/T and 3010C/T) were determined in 105 Egyptian children with FMF and in 125 controls by polymerase chain reaction-restriction fragment length polymorphism. Genotyping of the causative MEFV mutations was performed by reverse hybridization. Results: The M694I mutation was the most frequent allele (42.8%), followed by V726A (18.6%), M680I (17.1%), E148Q (11.9%) and M694V (9.0%). The frequency of the SAA1 α, β and γ alleles was not significantly different between FMF patients and controls. The genotype frequency of SAA1 α/α was higher in patients than in healthy subjects (21.0 vs. 14.4%) although it did not reach statistical significance. The clinical manifestations including age at disease onset, number of FMF attacks, colchicine dose and severity score were not related to genotypes of SAA1. However, M694V mutation and female gender were significantly associated with severity. Conclusion: The genetic polymorphism of SAA1 is not associated with susceptibility and severity of FMF in Egyptian children.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccb1377da1466a6f191de59dabb79554 https://doi.org/10.1159/000444933 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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