Lack of association between btb domain and cnc homolog 2 polymorphism and susceptibility to rheumatoid arthritis in Iranian population

Abstract

Background: Rheumatoid arthritis (RA) is an autoimmune systemic inflammatory disease, which mostly occurs in genetically susceptible individuals. Single-nucleotide polymorphism (SNP), as the major type of genetic variations, is one of the controversial issues discussed in a large portion of autoimmune disorders. BTB domain and CNC homolog 2 (BACH2), encoded by BACH2 gene, is a regulator of the immune system which reduces activation of T cells and suppresses the inflammation. In this study, we surveyed association of rs72928038 Single-nucleotide polymorphism (SNP) located in an intron region of BACH2 gene in Iranian RA population. Methods: Blood samples were collected from 623 RA patients and 412 age-, sex-, and ethnicity-matched healthy controls. In order to genotyping the rs72928038 SNP, amplification refractory mutation system-polymerase chain reaction was employed. Results: None of the alleles and genotypes of rs72928038 SNP had significantly different distributions between RA patients and healthy controls. The GA, GG, and AA genotypes were slightly frequent in patients compared with healthy controls but with no significant differences. Conclusions: This study did not show rs72928038 as a risk factor for RA in the Iranian population, which was strongly associated with other populations. This underscores genetic diversity in RA susceptibility in different populations.