Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, 81 Meishan Road, Hefei, Anhui, 230032, People's Republic of China.
Immunogenetics. 2012 Dec;64(12):935-8. doi: 10.1007/s00251-012-0650-0. Epub 2012 Sep 16.
The aim of this study was to evaluate whether two single-nucleotide polymorphisms (SNPs), AF4/FMR2 family, member 1 (AFF1) rs340630 and AF4/FMR2 family, member 3 (AFF3) rs10865035, show significant evidence for association with systemic lupus erythematosus (SLE) in a Chinese population. A total of 868 Chinese patients with SLE and 975 geographically and ethnically matched healthy control subjects were enrolled in the current study. The genotypes of these two SNPs were determined by Sequenom MassArray technology. Significant evidence for association of AFF3 rs10865035 with SLE was detected (for A versus G, P = 4.81 × 10(-4), odds ratio (OR) 1.26, 95% confidence interval (95% CI) 1.11-1.44). However, no association between AFF1 rs340630 and SLE was found in the Chinese population (for A versus G, P = 0.79, OR 0.98, 95% CI 0.86-1.12). No significant evidence for association of AFF3 rs10865035 polymorphism with any clinical features was detected. By targeting a variant with convincing evidence for association with rheumatoid arthritis, significant association of AFF3 rs10865035 with SLE was detected in the Chinese population, indicating that AFF3 might be a common autoimmunity gene. Further case-control studies based on larger sample sizes in diverse ethnic populations are required to clarify the role of AFF1 rs340630 in SLE.
本研究旨在评估两个单核苷酸多态性（SNPs），AF4/FMR2 家族成员 1（AFF1）rs340630 和 AF4/FMR2 家族成员 3（AFF3）rs10865035，在中国人群中是否与系统性红斑狼疮（SLE）有显著关联。共纳入 868 例中国 SLE 患者和 975 名地理和种族匹配的健康对照者。采用Sequenom MassArray 技术检测这两个 SNP 的基因型。AFF3 rs10865035 与 SLE 显著相关（A 对 G，P=4.81×10(-4)，优势比（OR）1.26，95%置信区间（95%CI）1.11-1.44）。然而，在中国人群中未发现 AFF1 rs340630 与 SLE 之间存在关联（A 对 G，P=0.79，OR 0.98，95%CI 0.86-1.12）。未发现 AFF3 rs10865035 多态性与任何临床特征存在显著关联。通过靶向与类风湿关节炎有明确关联的变异，在中国人群中检测到 AFF3 rs10865035 与 SLE 显著相关，表明 AFF3 可能是一个常见的自身免疫基因。需要在不同种族人群中进行更大样本量的病例对照研究，以阐明 AFF1 rs340630 在 SLE 中的作用。
