Screening of underlying genetic biomarkers for ankylosing spondylitis

Abstract

Genetic biomarkers for the diagnosis of ankylosing spondylitis (AS) remain unreported except for human leukocyte antigen B27 (HLA-B27). Therefore, the aim of the present study was to screen the differentially expressed genes (DEGs), and those that also possess differential single nucleotide polymorphism (SNP) loci in the whole blood of AS patients compared with healthy controls by integrating two mRNA expression profiles (GSE73754 and GSE25101) and SNP microarray data (GSE39428) collected from the Gene Expression Omnibus (GEO). Using the t-test, 1,056 and 1,073 DEGs were identified in the GSE73754 and GSE25101 datasets, respectively. Among them, 234 DEGs were found to be shared in both datasets, which were subsequently overlapped with 122 differential SNPs of genes in the GSE39428 dataset, resulting in identification of two common genes [eukaryotic translation elongation factor 1 epsilon 1 ( EEF1E1 ) and serpin family A member 1 ( SERPINA1 )]. Their expression levels were significantly upregulated and the average expression log R ratios of SNP sites in these genes were significantly higher in AS patients than those in controls. Function enrichment analysis revealed that EEF1E1 was involved in AS by influencing the aminoacyl-tRNA biosynthesis, while SERPINA1 may be associated with AS by participating in platelet degranulation. However, only the genotype and allele frequencies of SNPs (rs7763907 and rs7751386) in EEF1E1 between AS and controls were significantly different between AS and the controls, but not SERPINA1 . These findings suggest that EEF1E1 may be an underlying genetic biomarker for the diagnosis of AS.

RAB5C, SYNJ1, and RNF19B promote male ankylosing spondylitis by regulating immune cell infiltration

“…The "limma" package (an R software package based on Bioconductor specifically for processing expression profile microarray data) was used to standardize and analyze differences between the M_AS and M_HC data (16). DEGs were screened out using the Benjamini-Hochberg adjusted false discovery rate (FDR) <0.05, |log fold change (FC)| >0.263 as the standard (17).…”

Roles of aminoacyl-tRNA synthetase-interacting multi-functional proteins in physiology and cancer

“…Apart from their role as scaffolds in the MSC, AIMPs also have a variety of biological functions 20 – 23 . Notably, these non-canonical functions are closely related to immune regulation, nervous system functions, angiogenesis, viral replication, and genome stability (Fig.…”

EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1)

“…This may have an important significance in the pathogenesis of AS because eEF1E1 may be involved in AS relatedinflammation by upregulating TP53 and proinflammatory cytokines. This may suggest the use of EEF1E1 as an underlying genetic biomarker for the diagnosis of AS but other research are needed to determine the exact role of eEF1E1 overexpression in AS (Fan et al, 2019) Autism spectrum disorders EEF1E1 appears in research on developmental delay and autism spectrum disorders focused on deletions in chromosome 6p22.3-p24.3 (Celestino-Soper et al, 2012). However, is still not clear its role in these diseases.…”