ABSTRACT
Background
Defects in apoptotic cell clearance is a pathogenic factor in systemic lupus erythematosus (SLE). This study screened potential pathogenic single nucleotide polymorphisms (SNPs) related to anti-apoptosis from an SLE family and explored their contribution to SLE susceptibility in Chinese women.
Methods
Four SNPs (IKBKE rs15672, BANK1 rs12640056, BANK1 rs6842661, and NFKBIA rs1957106) with potential SLE susceptibility were analyzed for clinical characteristics between 567 patients with SLE and 345 healthy control subjects.
Results
IKBKE rs15672 G/A and BANK1 rs12640056C/T polymorphisms were associated with SLE susceptibility (rs15672 A vs G, P = 0.028, OR = 1.25, 95% CI = 1.02–1.52; rs12640056 T vs C, P = 0.015, OR = 0.78, 95% CI = 0.64–0.95, respectively). In addition, patients with AA+GA genotypes of IKBKE rs15672 had higher positive rates of anti-SSB antibodies (q = 0.008) and lower positive rates of anti-RIB antibodies (q = 0.024) than those with the GG genotype. There were no significant differences in BANK1 rs12640056 between different genotypes and clinical characteristics.
Conclusion
IKBKE rs15672 G/A and BANK1 rs12640056C/T polymorphisms are associated with susceptibility to SLE in Chinese women. This highlights the important role of these two SNPs in this disease and suggests that multiple genes from these pathways are candidates for functional studies and therapeutic targets.
Acknowledgements
We thank Naidan Zhang for assistance with the experiments and valuable discussion.
Disclosure statement
No potential conflict of interest was reported by the author(s).
Supplementary material
Supplemental data for this article can be accessed online at https://doi.org/10.1080/08820139.2022.2108325