The correlation between copy number variation (CNV) and the susceptibility to systemic lupus erythematosus (SLE) has been reported for various immunity-related genes. However, the contribution of CNVs to SLE susceptibility awaits more investigation. To evaluate the copy numbers in immunity-related genes such as TNFAIP3, TNIP1, IL12B, TBX21 (T-bet), TLR7, C4A, C4B, CCL3L1, and CCL3L3, the modified real competitive polymerase chain reaction (mrcPCR) assay was employed, and the association between the copy numbers and SLE susceptibility was analyzed in 334 SLE patients and 338 controls. CCL3L3-null status was significantly associated with SLE susceptibility (OR > 18, P < 0.0001), which remained significant by Bonferroni’s correction (corrected P = 0.0007). However, the significant association between C4B low-copy status and SLE susceptibility (OR = 1.6051, P = 0.0331) became non-significant by Bonferroni’s correction (corrected P = 0.3938). Except for these results, no other significant association between SLE susceptibility and copy number status in other genes was observed. The CCL3L3-null status may be a significant factor for SLE susceptibility.

已经报道了各种免疫相关基因的拷贝数变异 (CNV) 与系统性红斑狼疮 (SLE) 易感性之间的相关性。然而，CNV 对 SLE 易感性的贡献有待进一步研究。评估免疫相关基因的拷贝数，如TNFAIP3、TNIP1、IL12B、TBX21 ( T-bet )、TLR7、C4A、C4B、CCL3L1和CCL3L3使用改良的真实竞争性聚合酶链反应 (mrcPCR) 测定法，分析了 334 名 SLE 患者和 338 名对照者的拷贝数与 SLE 易感性之间的关联。CCL3L3- null 状态与 SLE 易感性显着相关（OR > 18，P  < 0.0001），通过 Bonferroni 校正（校正后的P  = 0.0007）仍然显着。然而，C4B低拷贝状态与 SLE 易感性之间的显着关联（OR = 1.6051，P  = 0.0331）通过 Bonferroni 的校正变得不显着（校正的P = 0.3938）。除了这些结果，没有观察到 SLE 易感性和其他基因拷贝数状态之间的其他显着关联。该CCL3L3 -null状态可能是SLE易感性显著因素。