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J.Health Sci., 55(4), 657-662, 2009

Genetic Polymorphisms of the Interleukin-1 beta (IL-1β) -511 and +3954 Single Nucleotide Polymorphisms (SNPs) in Malaysian Systemic Lupus Erythematosus (SLE) Patients

Kek-Heng Chua,a Tze-Pheng Lau,a Zhuang-Yun Tee,a Si-Yen Tan,b and Lay-Hoong Liana, *

aDepartment of Molecular Medicine, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia and bDepartment of Medicine, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia

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.