Department of Molecular Medicine, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia.
Rheumatol Int. 2012 Nov;32(11):3665-8. doi: 10.1007/s00296-011-2070-0. Epub 2011 Sep 1.
There have been numerous studies linking complement components and the pathogenesis of systemic lupus erythematosus (SLE). This is due to their numerous roles in modulating immune responses in the human body. This study examined the association of C2 and C7 genetic polymorphisms with the susceptibility to SLE based on two separate cohorts of patient and control samples from Malaysia. The 28-bp deletion in the C2 exon-intron junction and single nucleotide polymorphism in the 3'untranslated region in the C7 genes were detected based on direct polymerase chain reaction (PCR) and PCR-restriction fragment length polymorphism, respectively. A total of 150 patient and 150 healthy control samples were screened, but there was no association detected between either genes. All individuals presented with null deletion in C2 genes, while the C allele and CC genotypes were most commonly scored. These overall results suggest a lack of strong association with the C2 and C7 gene polymorphisms to the susceptibility of SLE in the Malaysian population.
已有大量研究将补体成分与系统性红斑狼疮(SLE)的发病机制联系起来。这是因为它们在调节人体免疫反应方面具有多种作用。本研究基于来自马来西亚的两个独立的患者和对照样本队列,检查了 C2 和 C7 基因遗传多态性与 SLE 易感性的关联。C2 外显子-内含子连接点的 28bp 缺失和 C7 基因 3'非翻译区的单核苷酸多态性分别通过直接聚合酶链反应(PCR)和 PCR-限制性片段长度多态性进行检测。共筛选了 150 例患者和 150 例健康对照样本,但未发现两种基因之间存在相关性。所有个体的 C2 基因均存在缺失缺失,而 C 等位基因和 CC 基因型最为常见。这些总体结果表明,C2 和 C7 基因多态性与马来西亚人群 SLE 的易感性之间缺乏强烈的关联。