Lv Tian-Tian, Wu Jun, Li Jun, Zhang Tian-Ping, Yang Xiao-Ke, Xiang Nan, Fan Yin-Guang, Pan Hai-Feng, Wang Bin
Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, 81 Meishan Road, Hefei, Anhui, China; Anhui Province Key Laboratory of Major Autoimmune Diseases, 81 Meishan Road, Hefei, Anhui, China.
Department of Rheumatology and Immunology, the First Affiliated Hospital of Anhui Medical University, 218 Jixi Road, Hefei, Anhui, China.
Gene. 2018 Feb 5;642:549-554. doi: 10.1016/j.gene.2017.11.072. Epub 2017 Dec 1.
The aim of this study was to investigate the association of interleukin (IL)-10 gene single nucleotide polymorphisms (SNPs) with susceptibility to systemic lupus erythematosus (SLE) in a Chinese population. 848 SLE patients and 461 normal controls were recruited in this study. Nine SNPs in IL-10 gene (rs1518110, rs1518111, rs1554286, rs1800890, rs1800893, rs3024493, rs3024495, rs3024498 and rs6667202) were genotyped using TaqMan genotyping assays on Fluidigm 192.24 system. The frequency of IL-10 rs3024498-C allele was significantly higher in patient group compared with control subjects (OR=5.118, 95% CI=1.819-14.405, P=0.002). No significant differences were detected for the distribution of allele and genotype frequencies of other eight SNPs between patients with SLE and controls after Bonferroni correction (all P>0.0056). Interestingly, significant differences were detected both in the allele and genotype frequencies of rs3024498 between SLE patients with and without arthritis (P=0.002, P=0.022, respectively).There was significant difference in genotype frequency at rs3024498 between SLE patients with and without malar rash (P=0.040). And, there was significant difference in allele frequency at rs3024498 between SLE patients with and without anti-double-stranded DNA (P=0.032). Meanwhile, significant difference in genotype frequency at rs1518110 and rs1518111 were found in patients with and without lupus headache (P=0.025, P=0.038, respectively). There were significant difference in allele and genotype frequency at rs1800890 and rs6667202 between SLE patients with and without thrombocytopenia (rs1800890: P=0.016, P=0.026, respectively; rs6667202: P=0.007, P=0.007, respectively). Further, significant difference were observed both in allele frequency and in genotype distribution of rs1800893 between patients with and without tubular urine and proteinuria (tubular urine: P<0.001, P=0.003, respectively; proteinuria: P=0.001, P=0.018, respectively). In summary, IL-10 rs3024498 polymorphism might contribute to SLE susceptibility and several clinical phenotypes.
本研究旨在探讨白细胞介素（IL）-10基因单核苷酸多态性（SNP）与中国人群系统性红斑狼疮（SLE）易感性之间的关联。本研究招募了848例SLE患者和461例正常对照。采用TaqMan基因分型检测法在Fluidigm 192.24系统上对IL-10基因中的9个SNP（rs1518110、rs1518111、rs1554286、rs1800890、rs1800893、rs3024493、rs3024495、rs3024498和rs6667202）进行基因分型。患者组中IL-10 rs3024498-C等位基因的频率显著高于对照组（OR=5.118，95%CI=1.819-14.405，P=0.002）。经Bonferroni校正后，SLE患者与对照组之间其他8个SNP的等位基因和基因型频率分布无显著差异（所有P>0.0056）。有趣的是，在有和没有关节炎的SLE患者之间，rs302
