Central Laboratory, and Department of Laboratory Medicine, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China.
Rheumatology (Oxford). 2011 Mar;50(3):473-80. doi: 10.1093/rheumatology/keq353. Epub 2010 Nov 14.
The three functional SNPs of BANK1 (rs10516487, rs17266594 and rs3733197) have been shown to be associated with SLE in Caucasian populations. The aim of this study was to investigate whether the association of BANK1 polymorphisms with SLE could be replicated in a Chinese population and whether the autoantibody production is relevant to BANK1 polymorphisms.
Genotyping of three variants in BANK1 was carried out by unlabelled probe high resolution melting (HRM) assay in 264 SLE cases and 268 controls in a Chinese Han population living in Shanghai region. The genotype frequencies of the detected polymorphisms were analysed in relation to the production of autoantibodies (ANA, anti-dsDNA, anti-RNP, anti-SSA, anti-SSB and anti-Smith) in SLE patients.
Samples with the target genotypes were accurately detected and easily distinguishable by unlabelled probe HRM assay. The frequencies of the rs10516487 C allele and the rs17266594 T allele were significantly increased compared with the controls (C allele: 88.6 vs 83.2%, P = 0.011; T allele: 88.3 vs 83.2%, P = 0.019). However, the frequencies of the rs3733197 G allele were not associated with SLE (G allele: 79.9 vs 79.1%, P = 0.741). The rs10516487 and rs17266594 polymorphisms were significantly associated with high-titre ANA (≥1 : 320) and production of anti-SSA antibodies in SLE patients compared with the control subjects.
Genotyping using unlabelled probes is a rapid, accurate and cost-effective closed-tube method. This study implies that rs10516487 and rs17266594 polymorphisms might contribute to individual susceptibility to SLE and influence the ANA/SSA autoantibody response in SLE patients in Chinese population.
BANK1 的三个功能性 SNP（rs10516487、rs17266594 和 rs3733197）已被证明与白种人群中的 SLE 相关。本研究旨在探讨 BANK1 多态性与 SLE 之间的关联在中国人群中是否可以复制，以及自身抗体的产生是否与 BANK1 多态性相关。
在中国上海地区的汉族人群中，对 264 例 SLE 病例和 268 例对照进行了 BANK1 三个变体的无标记探针高分辨率熔解（HRM）检测。分析了检测到的多态性的基因型频率与 SLE 患者自身抗体（ANA、抗 dsDNA、抗 RNP、抗 SSA、抗 SSB 和抗 Smith）的产生之间的关系。
无标记探针 HRM 检测可准确检测到目标基因型的样本，并可轻松区分。与对照组相比，rs10516487 C 等位基因和 rs17266594 T 等位基因的频率明显增加（C 等位基因：88.6%比 83.2%，P=0.011；T 等位基因：88.3%比 83.2%，P=0.019）。然而，rs3733197 G 等位基因与 SLE 无关（G 等位基因：79.9%比 79.1%，P=0.741）。与对照组相比，rs10516487 和 rs17266594 多态性与 SLE 患者高滴度 ANA（≥1:320）和抗 SSA 抗体的产生显著相关。
使用无标记探针的基因分型是一种快速、准确、经济有效的闭管方法。本研究表明，rs10516487 和 rs17266594 多态性可能导致个体对 SLE 的易感性，并影响中国人群中 SLE 患者的 ANA/SSA 自身抗体反应。
