IKZF1 rs4132601 and rs11978267 Gene Polymorphisms and Juvenile Systemic Lupus Erythematosus; relation to Lupus Nephritis

Abstract Background: The demographic factors, the socioeconomic status and the ethnicity of populations are important players that determine the incidence, the prevalence, and the spectrum of systemic lupus erythematosus (SLE) clinical presentations in different populations. Therefore, the purpose of the present research was to search for the presence of a relation between the IKZF1 rs4132601 and rs11978267 single nucleotide polymorphisms (SNPs) and the development of pediatric SLE (pSLE) and also to search for the association with the clinical presentations including lupus nephritis (LN). Methods : After DNA extraction from EDTA blood samples for 104 pSLE patients and 286 healthy controls, the investigated SNPs ( IKZF1 rs4132601 and rs11978267) were genotyped using TaqMan-Real-time PCR. Results: The G allele and GG homozygous genotype of IKZF1 rs4132601 were associated with pSLE (p‹0.001, OR 2.97 and p‹0.001, OR 3.2 respectively). The GG and GA haplotype were more frequent in pSLE patients than other haplotypes (p‹0.001, OR 3.47, and p=0.001, OR=2.8 respectively). The studied SNPs have no impact on the different features of pSLE. The rs4132601 TG genotype was significantly associated with proliferative LN and class IV of LN biopsy (p=0.01, and p=0.029 respectively) Conclusion: The IKZF1 rs4132601 can be considered a risk factor for SLE in the cohort of Egyptian children. The TG and GG genotypes of the IKZF1 rs4132601 may predispose to proliferative LN.