Abstract
A previous large-scale replication study validation of a genome wide association study (GWAS) identified IκB kinase β (IKBKB) single nucleotide polymorphisms (SNPs) as a risk factor associated with systemic lupus erythematosus (SLE) in a Chinese Han population. IKBKB SNPs were associated with polymerase β (POLB) SNPs and reduced POLB expression, and this was proposed to be an underlying cause of human SLE development. In the current case-control study, we evaluated IKBKB (rs12676482 and rs2272733) and POLB (rs3136717 and rs3136744) SNPs in 946 SLE patients and 961 healthy controls. We investigated the possible association of these four SNPs with SLE in a Chinese Han population using the polymerase chain reaction-ligation detection reaction (PCR-LDR) technique. The differences in the frequencies of the four SNP alleles and the genotypes and haplotypes of the POLB polymorphisms were statistically insignificant when the SLE patients were compared with the controls in the Chinese Han population enrolled in this study (all, p ˃ 0.05). Furthermore, no associations were detected using different genetic models (additive, dominant, and recessive; all, p ˃ 0.05). Our findings indicate that the IKBKB (rs12676482 and rs2272733) and POLB (rs3136717, rs3136744) SNPs confer no genetic predisposition to SLE risk in this Chinese Han population.
Highlights
Systemic lupus erythematosus (SLE) is a chronic systemic autoimmune disease that causes the immune system to attack healthy tissues and organs through the production of a diverse array of autoantibodies, complement activation and immune complex formation [1]
SLE patients presented with a variety of different blood autoantibodies, including anti-nuclear antibodies (ANA), anti-SSA/B, anti-Sm, anti-RNP and anti-dsDNA
A previous large-scale replication study showed that IKBKB rs12676482 was the susceptibility locus for SLE development in the Chinese Han population [7]. rs12676842 is a single nucleotide polymorphisms (SNPs) in the noncoding region adjacent to POLB that exists in perfect linkage disequilibrium with rs2272733 (r2 = 1), which is highly associated with reduced POLB expression in human cells [8]
Summary
Systemic lupus erythematosus (SLE) is a chronic systemic autoimmune disease that causes the immune system to attack healthy tissues and organs through the production of a diverse array of autoantibodies, complement activation and immune complex formation [1]. SLE prevalence ranges from 0.031% to 0.07% in China and from 0.007% to 0.071% in Europe [2,3]. No Association of IKBKB and POLB SNPs with SLE in Han Chinese
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