Clinical Immunology Unit, Clinical Pathology Department & Mansoura Research Center for Cord Stem Cell (MARC_CSC), Faculty of Medicine, Mansoura University, Mansoura, Egypt.
Nephrology Unit, Pediatric Department, Mansoura Faculty of Medicine, Mansoura University, Mansoura, Egypt.
Int J Immunogenet. 2024 Jun;51(3):173-182. doi: 10.1111/iji.12667. Epub 2024 Mar 17.
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 investigate the possible association between the Ikaros family zinc finger 1 gene (IKZF1) rs4132601 and rs11978267 single nucleotide polymorphisms (SNPs) and SLE susceptibility and clinical presentations including lupus nephritis (LN) among Egyptian paediatric patients. After DNA extraction from Ethylenediaminetetraacetic acid (EDTA) blood samples for 104 paediatric SLE (pSLE) patients and 286 healthy controls, the investigated SNPs (IKZF1 rs4132601 and rs11978267) were genotyped using TaqMan-Real-time Polymerase chain reaction (PCR). The G allele, GG and GT genotypes of IKZF1 rs4132601 were associated with pSLE (p<.001, OR 2.97, 3.2 and 2.25, respectively). The GG and GA haplotype were more frequent in pSLE patients than other haplotypes (p<.001, OR 3.47 and p = .004, OR = 2.8, respectively). The studied SNPs have no impact on the distinctive features of pSLE. The rs4132601 TG genotype was significantly associated with proliferative LN (p = .03) The IKZF1 rs4132601 can be considered a risk factor for SLE in the cohort of Egyptian children. The TG genotype of the IKZF1 rs4132601 may predispose to proliferative LN.
人口的人口统计学因素、社会经济地位和种族是决定不同人群中系统性红斑狼疮（SLE）临床表现的发病率、患病率和范围的重要因素。因此，本研究的目的是调查 Ikaros 家族锌指蛋白 1 基因（IKZF1）rs4132601 和 rs11978267 单核苷酸多态性（SNP）与埃及儿科患者 SLE 易感性和临床表型（包括狼疮肾炎[LN]）之间可能的关联。从乙二胺四乙酸（EDTA）血液样本中提取 104 名儿科 SLE（pSLE）患者和 286 名健康对照者的 DNA 后，使用 TaqMan-实时聚合酶链反应（PCR）对所研究的 SNP（IKZF1 rs4132601 和 rs11978267）进行基因分型。IKZF1 rs4132601 的 G 等位基因、GG 和 GT 基因型与 pSLE 相关（p<.001，OR 分别为 2.97、3.2 和 2.25）。与其他单倍型相比，pSLE 患者中 GG 和 GA 单倍型更为常见（p<.001，OR 分别为 3.47 和 p =.004，OR 分别为 2.8）。研究的 SNP 对 pSLE 的特征没有影响。rs4132601 TG 基因型与增生性 LN 显著相关（p =.03）。IKZF1 rs4132601 可被认为是埃及儿童队列中 SLE 的危险因素。IKZF1 rs4132601 的 TG 基因型可能易患增生性 LN。
