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标题：Genetic Polymorphisms of the Interleukin-1 beta (IL-1β) -511 and +3954 Single Nucleotide Polymorphisms (SNPs) in Malaysian Systemic Lupus Erythematosus (SLE) Patients
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作者：Kek-Heng Chua ; Tze-Pheng Lau ; Zhuang-Yun Tee 等
期刊名称：Journal of Health Science
印刷版ISSN：1344-9702
电子版ISSN：1347-5207
出版年度：2009
卷号：55
期号：4
页码：657-662
DOI：10.1248/jhs.55.657
出版社：The Pharmaceutical Society of Japan
摘要：Systemic lupus erythematosus (SLE) is an autoimmune disorder whereby the immune system's components act upon our body's self-antigens. The pathogenesis is mainly due to the hyperactivity of T helper cells and B lymphocytes, as well as an abnormal apoptosis pathway. SLE has been linked to several genes, including the interleukin-1 beta (IL-1β), as it is primarily involved in the stimulation of B cells proliferation and differentiation, as well as costimulation of T cell activation, together with activation of natural killer (NK) cells. This study aims to examine the distribution pattern and association of IL-1β single nucleotide polymorphisms (SNPs) with SLE. A total of 100 SLE patients and 100 matched normal healthy controls were sampled. The analysis of IL-1β -511 C/T and +3954 E1/E2 SNPs were carried out via polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLPs). A significant association was observed between the IL-1β -511 C/T polymorphisms and the Malaysian SLE samples ( p <0.05), with the C allele showing a higher risk to SLE compared to the T allele. The IL-1β +3954 E1/E2 polymorphisms were also significant to SLE ( p <0.05), with the E1 allele exhibiting a relatively higher disease penetration compared to the E2 allele. Both SNPs analysed were found to be significantly corelated with Malaysian SLE samples.
关键词：Single nucleotide polymorphism;interleukin-1 beta;systemic lupus erythematosus