Peric Marina, Anicin Aleksandra, Brankovic Marija, Stajic Natasa, Putnik Jovana, Paripovic Aleksandra, Jankovic Milena, Bozovic Ivo, Perovic Vladimir, Novakovic Ivana, Vukomanovic Vladislav, Milosevic Emina
Mother and Child Healthcare Institute of Serbia "Dr. Vukan Cupic", 11070 Belgrade, Serbia.
Institute of Microbiology and Immunology, Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia.
J Clin Med. 2025 Jul 18;14(14):5119. doi: 10.3390/jcm14145119.
: Glomerulonephritis (GNs) is a heterogeneous group of inflammatory kidney diseases. Novel genetic methods have revealed some disease-causing and susceptibility genes underlying primary and secondary GNs. We aimed to investigate the presence of the single nucleotide polymorphisms (SNPs) rs12917707, found in the gene, and rs17319721, found in the gene, as well as different polymorphisms in immune system genes in a group of children with GN. : The study included 71 children with GN (40 with primary and 31 with secondary GN) and 119 healthy children (HC). SNPs of the (rs12917707), (rs17319721), (rs1800871 and rs3024505), (rs1800795), (rs3212227), (rs11209026 and rs1800896), and (rs361525 and rs1800629) genes were genotyped. : The median age of the patients was 8 years at the onset of GN and 14 years at sampling. Allele A for rs1800629 in the gene was more common in patients with GN in comparison to HCs ( = 0.009), followed by the difference in genotype distributions ( = 0.021), where AA and GA genotypes were more prevalent in patients. We found a statistically significant difference in haplotype distributions between patients and HCs for TNF, with GN patients having the GGAG haplotype more frequently and HCs having GGGG ( < 0.05). No correlation between the investigated SNPs and patient clinical characteristics (disease onset, primary or secondary GN, severity of disease, occurrence of remission, and presence of hypertension) was observed. : An association between the gene and different types of GN was noticed in children with GN. This may help us to understand the pathogenesis of these disorders and develop new treatments to cover the unmet needs of children with GN.
肾小球肾炎（GNs）是一组异质性炎症性肾脏疾病。新型基因方法已揭示了一些原发性和继发性GNs的致病基因和易感基因。我们旨在调查在一组GN患儿中，位于 基因的单核苷酸多态性（SNP）rs12917707以及位于 基因的rs17319721的存在情况，以及免疫系统基因中的不同多态性。：该研究纳入了71例GN患儿（40例原发性GN和31例继发性GN）和119例健康儿童（HC）。对 （rs12917707）、 （rs17319721）、 （rs1800871和rs3024505）、 （rs1800795）、 （rs3212227）、 （rs11209026和rs1800896）以及 （rs361525和rs1800629）基因的SNP进行基因分型。：患者发病时的中位年龄为8岁，采样时为14岁。与HC相比， 基因中rs1800629的等位基因A在GN患者中更常见（ = 0.009），其次是基因型分布的差异（ = 0.021），其中AA和GA基因型在患者中更普遍。我们发现患者与HC之间TNF单倍型分布存在统计学显著差异，GN患者中GGAG单倍型更常见，HC中GGGG更常见（ < 0.05）。未观察到所研究的SNP与患者临床特征（疾病发作、原发性或继发性GN、疾病严重程度、缓解情况以及高血压的存在）之间存在相关性。：在GN患儿中发现 基因与不同类型的GN之间存在关联。这可能有助于我们了解这些疾病的发病机制，并开发新的治疗方法以满足GN患儿未被满足的需求。
