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 r2 value between them was poor. All the studied SNPs may contribute to the susceptibility of RA disease in Egyptian population except for FokI SNP.
Highlights
Rheumatoid arthritis (RA) is an autoimmune disease which is considered genetically complex
RA pathogenesis is an active area of research including several genes
The distribution of genotypes and alleles of eight single nucleotide polymorphisms (SNPs) was used to examine the association with RA susceptibility in the Egyptian population (105 RA patients and 80 healthy controls)
Summary
Rheumatoid arthritis (RA) is an autoimmune disease which is considered genetically complex. RA is the leading cause of bone loss and chronic inflammation of the joints, most prominently in white populations. The prevalence of the disease in women is twice that in men. RA attacks the body most often at the age of 40. Over the past 40 years, statistical geneticists have facilitated the discovery of RA biomarkers. Multiple methods have been developed to detect the association between the examined SNPs and disease susceptibility. HLA-DRB1 was PLOS ONE | DOI:10.1371/journal.pone.0131960 July 6, 2015
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