SLE is an autoimmune and polygenic disorder characterized by an accumulation and deposition of immune complexes. Several studies have indicated differential impact of FcgammaR polymorphism genotypes in different ethnic groups studied. The Fc receptor for IgG class IIA gene (FcgammaRIIA) occurs in two allelic forms. The allele FcgammaRIIA-H131 encodes a receptor with a histidine at the 131 amino acid position; the other allele FcgammaRIIA-R131 encodes an arginine. This polymorphism is believed to determine the affinity of the receptor for hIgG2 in immune complexes. FcgammaRIIA-H131 has a higher capacity for hIgG2 compared to FcgammaRIIA-R131 as measured by in vitro studies of insoluble immune complex clearance. We have investigated the polymorphism for FcgammaRIIA using a novel polymerase chain reaction-allele specific primer (PCR-ASP) method designed specifically to distinguish the two allelic forms. Our studies were based on 175 Chinese and 50 Malays SLE patients as well as 108 and 50 ethnically matched healthy controls for the respective groups. Analysis of the data (chi2 test with Yates correction factors and odds ratios) revealed that there were no significant differences between SLE patients and controls. We have not found evidence of a protective effect conferred by FcgammaRIIA-H131 in the ethnic groups studied.

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that involves the inflammation of various organs upon deposition of immune complexes and is characterized by uncontrolled B cell hyperactivity. Despite intensive research on the etiology of the disease, the exact cause of the onset of SLE is unknown. The pathogenesis of the disease has been proposed to be associated with the imbalance of T helper type 1 (Th1) and Th2 cytokine activities. Elevated serum levels of interleukin-6 (IL-6), a Th2 cytokine with various functions in the regulation of human biological systems, are observed in SLE patients. In the present study, 100 Malaysian SLE patients and 100 controls were evaluated in order to determine the association of polymorphisms existing in the promoter region of the IL-6 gene with the onset of SLE. The homozygous G genotype was found to be significant in SLE patients (χ 2 = 33.754; P = 0.00000000625), whereas the heterozygous G/C genotype was significant in the controls (χ 2 = 25.087; P = 0.000000548). We suggest that the C allele might have a masking effect on the G allele when both alleles are present in heterozygous individuals. However, we did not observe any significant association of the homozygous C allele with the onset of SLE or with protection from the disease (χ 2 = 1.684; P = 0.194366).

In this study, we investigated the polymorphisms of the exon 1 (+49A/G), promoter sites (-1722T/C, -1661A/G, -318C/T), and 3'-untranslated region (3'-UTR) (+6230 A/G) of the CTLA-4 gene in systemic lupus erythematosus (SLE) affected patients. Polymerase chain reaction-restriction fragment length polymorphism was used to determine genotypes of these five markers in 130 SLE patients and 130 healthy controls. Of the five tested polymorphisms, there was no statistical significant difference between the genotypic and allelic frequencies of patients with SLE and controls. Hence, we propose that the CTLA-4 gene does not play a major role in the genetic susceptibility to the development of SLE in the Malaysian population.

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.

FcγRIIs are the most widely distributed of the Fcγ receptor family and play an important role in the clearance of immune complexes. Evidence that the FcγRIIa–R131 allotype is less able to process and clear immune complexes effectively suggests that this may be a disease susceptibility factor for systemic lupus erythematosus (SLE). Data from studies published thus far do not agree on the potential role of FcγRIIa polymorphism in the genetics of SLE. Most studies in fact show no evidence for any correlation between polymorphism of FcγRIIa and risk for SLE. However, it remains to be determined whether FcγRIIa polymorphism may play a critical role in certain groups of patients, especially in those of differing ethnic background. Polymorphism of FcγRIIa may also be important in determining disease phenotype, and identification of this influence may have important implications in patient care and in identifying patients for more aggressive therapy.