Department of Nephrology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Int J Immunogenet. 2014 Apr;41(2):112-8. doi: 10.1111/iji.12087. Epub 2013 Sep 3.
Interferon regulatory factor 8 (IRF8) has been shown to have diverse roles in the regulation of the immune system. Two recent studies had revealed the association between the single-nucleotide polymorphisms (SNPs; rs11644034 and rs2280381) of IRF8 and systemic lupus erythematosus (SLE) in a multiethnic population. The purpose of this study was to evaluate whether the association could be replicated in a Chinese Han population. Genotypes were determined by a multiplex polymerase chain reaction-ligase detection reaction (PCR-LDR) in 358 patients and 357 geographically matched healthy controls. Significant differences in genotype frequency were found between SLE and control individuals (rs11644034: AA vs. GG, P = 0.014, odds ratio (OR) = 0.980, 95% confidence internal (CI): 0.964-0.996; rs2280381: CC vs. TT, P = 0.005, OR = 0.150, 95% CI: 0.033-0.676). Conditional logistic regression analysis showed that the association of rs2280381 remained significant (P adjusted = 0.028) after adjustment for rs11644034, but not vice versa (P adjusted = 0.361).When stratifying patients with SLE according to clinical subtypes, SNP rs2280381 was found to be associated with low complement in patients with SLE. However, SNP rs11644034 was not found to be associated with SLE clinical subgroups. Analysis of the haplotypes revealed that haplotype G-T and G-C were also significantly associated with SLE (P = 0.002 and P = 0.012, respectively). Our study indicated that the IRF8 gene polymorphisms might be associated with susceptibility to SLE and with disease-related clinical manifestations in Chinese Han population.
干扰素调节因子 8（IRF8）在免疫系统调节中具有多种作用。最近的两项研究揭示了多民族人群中 IRF8 的单核苷酸多态性（SNP；rs11644034 和 rs2280381）与系统性红斑狼疮（SLE）之间的关联。本研究旨在评估该关联是否可以在中国汉族人群中得到复制。通过多重聚合酶链反应-连接酶检测反应（PCR-LDR）在 358 例患者和 357 名地理匹配的健康对照中确定基因型。SLE 和对照组个体之间发现基因型频率存在显著差异（rs11644034：AA 与 GG，P = 0.014，优势比（OR）= 0.980，95%置信区间（CI）：0.964-0.996；rs2280381：CC 与 TT，P = 0.005，OR = 0.150，95%CI：0.033-0.676）。条件逻辑回归分析表明，在调整 rs11644034 后，rs2280381 的关联仍然显著（P adjusted = 0.028），但反之则不然（P adjusted = 0.361）。当根据临床亚型对 SLE 患者进行分层时，发现 SNP rs2280381 与 SLE 患者低补体有关。然而，SNP rs11644034 与 SLE 临床亚组无关。单倍型分析表明，G-T 和 G-C 单倍型也与 SLE 显著相关（P = 0.002 和 P = 0.012）。本研究表明，IRF8 基因多态性可能与 SLE 易感性和汉族人群中与疾病相关的临床表现有关。
