Affiliation:
1. School of Basic Medicine Sciences Naval Medical University Shanghai China
2. Department of Dermatology Shanghai Baoshan District Wusong Central Hospital Shanghai China
3. Department of Rheumatology and Immunology The First Affiliated Hospital of Naval Medical University Shanghai China
Abstract
AbstractBackgroundReports have shown that several mutations of ring finger protein 123 (RNF123) are related to ankylosing spondylitis (AS) and that the nuclear factor kappa B (NF‐κB) pathway may be involved in the etiology of AS. Herein, we sought to investigate the involvement of RNF123 and the NF‐κB pathway in AS.MethodsTwenty AS patients and 20 healthy controls admitted to Shanghai Changhai Hospital were included. DNA samples extracted from peripheral blood mononuclear cell samples were sequenced. Then, two groups of comparative experiments were designed. Plasmids that altered the expression of RNF123 were synthesized and the differences in gene expression after transfection into cells were measured. Pathway analysis based on the Kyoto Encyclopedia of Genes and Genomes database was used to determine the pathways associated with the changes in RNF123 expression.ResultsEight specific single‐nucleotide polymorphisms at the RNF123 locus were identified in samples from AS patients. Differential screening results showed that the differential genes, both when RNF123 was overexpressed and knocked down, were significantly positively associated with the NF‐κB pathway (p < 0.01).ConclusionRNF123 mutations are associated with the onset of AS, and this may be regulated through the NF‐κB pathway.