| BackgroundRheumatoid arthritis(RA)is a chronic,persistent autoimmune disease characterized by autoantibody formation,synovial inflammation and joint damage.The typical clinical symptom is multiple symmetrical arthritis.Without early and systematic treatment,In severe cases,it can cause joint deformities,impaired function,or even permanent disability,which causes great burden on the health and life of patients.At present,the global incidence of RA is about 1%,most of which are middle-aged women.At present,the cause of RA is not fully understood,It may be related to multiple factors such as genetics,environment,endocrine and immune disorders,among which genetic factors play an important role.Collagen triple helix repeat containing-1(CTHRC1)is a highly conserved secretory protein in vertebrates,which can be transiently expressed in injured arteries,promote cell migration and inhibit collagen synthesis.CTHRC1 participates in vascular remodeling,wound repair and bone metabolism in the body,which may be related to the occurrence,invasion and metastasis of human malignant tumors.Recently,it has been found that CTHRC1 is significantly increased in the peripheral blood of RA patients,and is involved in the activation of fibroblast-like synovial cells and pannus formation.CTHRC1 gene is also related to the gender specificity of arthritis in mice.Based on the current research,it is speculated that CTHRC1 gene may be involved in the pathogenesis of RA.ObjectiveTo explore the association between CTHRC1 gene single nucleotide polymorphism(SNP)and the risk of RA,and to determine the serum CTHRC1 level of RA,and to analyze its relationship with clinical indicators.MethodsThis study is divided into two parts,using case-control study.In the first part,the serum CTHRC1 levels of 49 RA patients and 40 healthy controls were measured by enzyme-linked immunosorbent assay(ELISA),and the correlation analysis was performed with the collected clinical indicators.In the second part,The samples of 320 RA patients and 190 healthy controls were genotyped by imLDR technology.The genotype frequencies,allele frequencies and distribution differences of genotypes of different disease models at six SNP loci of CTHRC1 gene in RA patients and healthy controls were statistically analyzed and compared by SHEsis online software and SPSS 25.0 software.The association between the allele frequencies,genotype frequencies and genotype frequencies of different disease models at each loci and laboratory indexes of RA patients was analyzed to explore the association between CTHRC1 gene polymorphism and susceptibility to RA diseases.Test level α=0.05.Results(1)The serum CTHRC1 level in RA group was higher than that in healthy control group,and the difference was statistically significant(Z=-2.33,P<0.05).Moreover,the serum CTHRC1 level in RA group was correlated with IgM level.(2)The genotype frequencies and allelic frequencies of the six SNP loci of the CTHRC1 gene,rs3133799,rs6995597,rs3098229,rs6252557,rs144320802,rs3098233,were not statistically significant in the RA group and the healthy control group.(3)There was no significant difference in the distribution of five major haplotypes AACGCT,AATGTT,GATACC,GATGCC and GGTGTT constructed by six SNP loci between RA group and healthy control group(P>0.05)(4)No statistically significant results were found in association analysis between SNP sites and laboratory indicators such as erythrocyte sedimentation rate,rheumatoid factor,C-reactive protein and anti-citrullinated protein antibodies in RA group(P>0.05).ConclusionsIn Shandong Han population,the serum CTHRC1 level in RA group was higher than that in healthy control group,and the difference was statistically significant.The serum CTHRC1 level in RA patients may be related to IgM level.CTHRC1 gene rs3133799,rs6995597,rs3098229,rs62525557,rs 144320802,rs3098233 loci may not be associated with the genetic susceptibility of RA in Shandong Han population. |
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