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Association study of CARD8 (p.C10X) and NLRP3 (p.Q705K) variants with rheumatoid arthritis in French and Tunisian populations.
Ben Hamad, M; Cornelis, F; Marzouk, S; Chabchoub, G; Bahloul, Z; Rebai, A; Fakhfakh, F; Ayadi, H; Petit-Teixeira, E; Maalej, A.
Afiliação
  • Ben Hamad M; Laboratory of Human Molecular Genetics, Faculty of Medicine, Sfax, Tunisia. myriam_bh@yahoo.fr
Int J Immunogenet ; 39(2): 131-6, 2012 Apr.
Article em En | MEDLINE | ID: mdl-22128899
ABSTRACT
The objective of the study was to investigate the association of caspase activating and recruitment domain 8 (CARD8) and nucleotide-binding oligomerization domain, leucine-rich repeat and pyrin domain containing 3 (NLRP3) polymorphisms with rheumatoid arthritis (RA) in Tunisian and French populations. CARD8 (c.30T>A, rs2043211) and NLRP3 (c.2113C>A, rs35829419) single nucleotide polymorphisms (SNPs) were genotyped in 100 French RA trio families and 141 Tunisian patients with RA and 191 unrelated healthy controls, using TaqMan(®) allelic discrimination assay. The genetic analyses for the association and linkage in French families were performed using the comparison of allelic frequencies (AFBAC), the genotype relative risk (GRR) and the transmission disequilibrium test (TDT). Data for case and control samples were analysed by chi-square-test, GRR and odds ratio (OR). No significant differences between alleles and genotypes frequencies were detected in French trio and Tunisian patients with RA and controls, either with CARD8 or with NLRP3 SNPs both in French and in Tunisian populations. Moreover, stratifying patients according to the presence of rheumatoid factor (RF), anti-cyclic peptides antibodies (ACPA), erosion, nodules, other autoimmune disease or HLA-DRB1*04-positive subgroups did not show any significant association with CARD8 or NLRP3 (P ≥ 0.05). This study suggests that variations in the innate immunity genes CARD8 (p.C10X) and NLRP3 (p.Q705K) have no effect on RA susceptibility either in the Tunisian or in the French population.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Artrite Reumatoide / Proteínas de Transporte / Grupos Populacionais / Proteínas Adaptadoras de Sinalização CARD / Proteínas de Neoplasias Tipo de estudo: Etiology_studies / Observational_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male / Middle aged País/Região como assunto: Africa / Europa Idioma: En Revista: Int J Immunogenet Assunto da revista: ALERGIA E IMUNOLOGIA / GENETICA Ano de publicação: 2012 Tipo de documento: Article País de afiliação: Tunísia

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Artrite Reumatoide / Proteínas de Transporte / Grupos Populacionais / Proteínas Adaptadoras de Sinalização CARD / Proteínas de Neoplasias Tipo de estudo: Etiology_studies / Observational_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male / Middle aged País/Região como assunto: Africa / Europa Idioma: En Revista: Int J Immunogenet Assunto da revista: ALERGIA E IMUNOLOGIA / GENETICA Ano de publicação: 2012 Tipo de documento: Article País de afiliação: Tunísia