Correlation between TNFSF15 gene polymorphism and its related protein and primary biliary cholangitis
Objective To investigate the relationship between single nucleotide polymorphisms (SNPs) of tumor necrosis factor 15 (TNFSF15) gene and its related protein tumor necrosis factor-like ligand 1A (TL1A) and primary biliary cholangitis.Methods A total of 120 patients with PBC at Guizhou Provincial People's Hospital from September 2018 to September 2020 were selected as the case group.Simultaneously,120 healthy individuals undergoing medical examinations during the same period at the same hospital were chosen as the control group.The SNP sites (rs55717217,rs6478108,rs4979462,rs10114470,rs1857335,and rs12235514) were screened as research loci.The genotyping of SNPs in the study population was performed by Sanger sequencing technology.The concentration of TL1A in the peripheral blood from the two groups was detected and the correlations between different allele genes at SNP sites and the concentration of serum biochemical indicators including ALT,AST,ALP,GGT,TBIL,DBIL,TBA,ALB,and TL1A were analyzed.Results The SNP polymorphism analysis revealed significant differences in the alleles and distribution frequencies of genotypes rs55717217,rs6478108,rs4979462,and rs1857335 between the PBC group and the healthy control group (x2=16.443,13.463,7.904,7.502,17.313,13.845,16.233,13.687,P<0.05).However,the differences at the rs10114470 and rs12235514 loci were not statistically significant (x2=4.462,3.008,3.445,3.342,P>0.05).The concentration of TL1A in peripheral blood in the PBC group was significantly higher than that in the control group and the difference was statistically significant (t=2.59,P<0.05).There was a statistically significant difference in the expression levels of ALT and AST between different genotypes at rs4979462 and rs55717217 (t=2.12,2.23,3.35,3.36,P<0.05).The TL1A levels showed a positive correlation with AST,ALT,ALP,GGT,and TBA (r=0.202,0.252,0.313,0.328,0.129,P<0.05).However,there was no obvious correlation with TBIL,DBIL,and ALB (P>0.05).ROC curve analysis revealed that the area under the curve (AUC) for TL1A in diagnosing primary biliary cholangitis (PBC) is 0.838.Conclusion Polymorphisms of rs4979462,rs55717217,rs6478108,and rs1857335 in the TNFSF15 gene are susceptibility loci associated with PBC.The rs4979462 and rs55717217 in TNFSF15 were correlated with high levels of ALT and AST in plasma.TL1A exhibits significant correlations with AST,ALT,ALP,GGT,and TBA,indicating its accuracy in diagnosing PBC.