Abstract
BACKGROUND: The genetic polymorphisms (rs708035, rs3844283) of Interleukin-1 receptor associated kinases 2 (IRAK2) is involved in the NFκB regulatory pathway. The frequencies of IRAK2 gene are unknown in Pakistani population. Therefore, the study was designed to examine the association of targeted single nucleotide polymorphism(s) in IRAK2 gene of RA patients. METHODOLOGY: The study participants were selected by ACR/EULAR 2010 standards. After ethical approval, the blood samples of patients and healthy controls were collected for the extraction of DNA followed by the amplification of targeted polymorphism(s) via Tetra-primer Amplification Refractory Mutation System (T-ARMS PCR). Desired products were observed via agarose gel electrophoresis. RESULTS: The allele frequency of wild type A and C is frequent among patients and mutant T and G is frequent among controls. The rs708035 showed significant protective association while rs3844283 was found to be associated with risk of RA. Genetic model associations were applied to determine the role of genotypes. In combination analyses of alleles revealed AC haplotype was found to be associated with risk and TG provide protection against RA. Moreover, targeted SNPs were found to be in 61% Linkage Disequilibrium among the targeted population. CONCLUSIONS: Current study revealed the protective and risk association of targeted SNPs (rs708035, rs3844283). Study might be beneficial as it provides baseline data regarding targeted SNPs and their role in the disease progression. This could be served as potential biomarker for diagnostic purpose and effectively utilized in precision medicine approach.