title: Genetic Case-Control Study for Eight Polymorphisms Associated with Rheumatoid Arthritis.
abstract: Rheumatoid arthritis (RA) is an autoimmune disease which has a significant socio-economic impact. The aim of the current study was to investigate eight candidate RA susceptibility loci to identify the associated variants in Egyptian population. Eight single nucleotide polymorphisms (SNPs) (MTHFR-C677T and A1298C, TGFβ1 T869C, TNFB A252G, and VDR-ApaI, BsmI, FokI, and TaqI) were tested by genotyping patients with RA (n = 105) and unrelated controls (n = 80). Associations were tested using multiplicative, dominant, recessive, and co-dominant models. Also, the linkage disequilibrium (LD) between the VDR SNPs was measured to detect any indirect association. By comparing RA patients with controls (TNFB, BsmI, and TaqI), SNPs were associated with RA using all models. MTHFR C677T was associated with RA using all models except the recessive model. TGFβ1 and MTHFR A1298C were associated with RA using the dominant and the co-dominant models. The recessive model represented the association for ApaI variant. There were no significant differences for FokI and the presence of RA disease by the used models examination. For LD results, There was a high D' value between BsmI and FokI (D' = 0.91), but the r(2) value between them was poor. All the studied SNPs may contribute to the susceptibility of RA disease in Egyptian population except for FokI SNP.
authors.affiliation: Biomedical Engineering Department, Minia University, Minia, Egypt.
authors.forename: Mohamed N
authors.initials: MN
authors.lastname: Saad
authors.affiliation: Biomedical Engineering Department, Misr University for Science and Technology, 6th of October City, Egypt.
authors.forename: Mai S
authors.initials: MS
authors.lastname: Mabrouk
authors.affiliation: Systems and Biomedical Engineering Department, Faculty of Engineering, Cairo University, Giza, Egypt.
authors.forename: Ayman M
authors.initials: AM
authors.lastname: Eldeib
authors.affiliation: Medical Biochemistry and Molecular Biology Department, Faculty of Medicine, Cairo University, Giza, Egypt.
authors.forename: Olfat G
authors.initials: OG
authors.lastname: Shaker
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D001172:Arthritis, Rheumatoid / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008233:Lymphotoxin-alpha / Q000235:genetics*; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D018167:Receptors, Calcitriol / Q000235:genetics*; D053773:Transforming Growth Factor beta1 / Q000235:genetics*
chemical_list: D008233:Lymphotoxin-alpha; D018167:Receptors, Calcitriol; C508960:TGFB1 protein, human; D053773:Transforming Growth Factor beta1; D042965:Methylenetetrahydrofolate Reductase (NADPH2)