Author/Authors :
Salehi, Rasoul Pediatric Inherited Diseases Research Center - Research Institute for Primordial Prevention of Non-Communicable Disease and Department of Genetics and Molecular Biology - School of Medicine - Isfahan University of Medical Sciences, Isfahan, Iran , Motaghi, Mina Department of Internal Medicine - Division of Rheumatology - School of Medicine - Isfahan University of Medical Science, Isfahan, Iran , Salehi, Amirhossein Department of Internal Medicine - Division of Rheumatology - School of Medicine - Isfahan University of Medical Science, Isfahan, Iran , Karimzadeh, Hadi Department of Internal Medicine - Division of Rheumatology - School of Medicine - Isfahan University of Medical Science, Isfahan, Iran , Pakzad, Bahram Department of Internal Medicine - Division of Rheumatology - School of Medicine - Isfahan University of Medical Science, Isfahan, Iran
Abstract :
Background: Rheumatoid Arthritis (RA) has multifactorial etiology and numerous genetic and environmental factors have been related to an increased risk of RA. Re-cently, Genome-Wide Association Studies (GWAS) suggested a large number of Single Nucleotide Polymorphisms (SNPs) loci affecting the susceptibility to RA. One of these loci is rs6859219 (C>A), a functional polymorphism in the ANKRD55 gene which was associated with the expression of ANKRD55 and IL6ST. In the current study, we eval-uated the possible association between rs6859219 (intronic variant) in the ANKRD55 gene with RA risk in the Iranian population.
Methods: A case-control study using 118 RA patients and 115 healthy counterparts was undertaken in order to determine rs6859219 genotypes using real-time polymerase chain reaction High-Resolution Melting (HRM) method.
Results: There was a significant difference in the genotype and allele frequencies of rs6859219 between patients and controls (p<0.001). Logistic regression analysis demon-strates that CC genotype and C allele increased the risk of RA (OR for CC genotype= 7.12; 95%CI [3.51-15.05]/ or for C allele=4.16; 95%CI [2.78-6.28]). Furthermore, regarding the dominant and recessive model of inheritance, RA patients indicated obvious associa-tion of the rs6859219 variant compared to healthy controls (p<0.001). Moreover, in the patient group, there was a significant correlation between C-Reactive Protein (CRP) concentration with rs6859219 polymorphism (p<0.001).
Conclusion: Our findings propose a substantial correlation between rs6859219 poly-morphism and RA risk and clinical characteristics of this disease in the Iranian popula-tion.
Keywords :
Autoimmune disease , Iran , Rheumatoid arthritis , Single nucleotide polymorphisms