Objective: The aim of this study was to examine the association of CD40 polymorphisms with the risk of SLE in the Korean population.
Methods: A total of 601 Korean SLE patients and 984 healthy controls were enrolled. We selected seven CD40 gene SNPs based on previous results of CD40 gene sequencing in the Korean population. Statistical analysis was carried out by logistic regression, controlling for age and sex as covariates. Odds ratios (ORs) and P-values in co-dominant, dominant and recessive models were also calculated.
Results: SNP rs3765456 showed significant association with risk of SLE (OR = 1.34, P = 0.007, Pcorr = 0.03) in the dominant model. SNPs rs1883832 and rs4810485, and haplotype 2 (GTTCTAA) were also associated with the risk of SLE in the dominant model, but statistical significance disappeared after correction for multiple testing. Haplotype 2 had a protective effect on LN (OR = 0.47, P = 0.01, Pcorr = 0.05) in the recessive model while rs73115010, rs6074028 and haplotype 3 (ACGTCGG) resulted in increased risk of arthritis in the recessive model (OR = 2.87, 2.76 and 2.46, P = 0.002, 0.004 and 0.01, Pcorr = 0.009, 0.02 and 0.05, respectively).
Conclusion: CD40 gene polymorphisms are possible risk factors for SLE development, especially rs3765456 in the dominant model. CD40 polymorphisms are also associated with SLE clinical manifestation, mainly nephritis and arthritis. Further replication with larger numbers, and populations of different ethnicities, are needed to confirm our findings.