| Background:Rheumatoid arthritis (RA) is a chronic autoimmune arthritis which mainly characterized by progressive arthritis. The main pathological changes of RA is chronic synovitis as long as those touch the articular cartilages and bone, they cause joint function loss with joint deformity and ankylosis. Most experts suggest RA as a complex multifactorial disease, jointly caused by genetic factors, environmental factors and immune factors. The HLA gene is located on chromosome6(6p21.3) and is the only proven susceptibility gene that is related to RA among all human races. In recent years, the genome-wide association studies have promoted many researches on non-HLA genes associated single nucleotide polymorphisms and RA correlation, including vitamin D metabolism related genes. Most biological functions of vitamin D are achieved through the transcription of target genes mediated by the vitamin D receptor (VDR). At present, however, results on the correlation between RA and VDR vary among different populations, and no such researches have been carried out specifically among Hunan Han population.Objectives:1. To study the site polymorphism of Fok I (rs2228570) in VDR and its correlation with RA;2. To study the site polymorphism of Bsm I (rs1544410) in VDR and its correlation with RA;3. To study the site polymorphism of Apa I (rs7975232) in VDR and its correlation with RA.Methods:1. Objects of study:236patients with RA were admitted as cases, all of who are hospitalized in the Urology Department of the Second Xiangya hospital of Zhongnan University or the Rheumatism Immunity Branch of the third Xiangya hospital of Zhongnan University, have been discharged from the formal two hospitals but are clinically definite or laboratory supported definite with RA.220unrelated healthy persons that admitted as the control group, who have normal hepatorenal function and no recent infection. The age and gender of the controls are in match with that of the cases. Informed consent was obtained from all subjects.2. The peripheral venous blood was taken:The venous blood was drew from the objects of study after an overnight fast and ethylene diaminete traacetic acid (EDTA) was used for anticoagulation. The extraction of genomic DNA was prepared.3. Adopt the technology of Sequenom Mass Array to examine and analyze the polymorphism of Fok I, Bsm I and Apa I in VDR of the cases and controls and compare the genotype frequency, the allele frequency and linkage disequilibrium distributions of the two groups.4. Analyze the data with SPSS19.0. The characteristic of group representation was found in the genotypic distribution of the cases and the controls with the Hardy-Weinberg equilibrium test. The genotype and allele number of Fok I, Bsm I and Apa I in VDR was calculated by direct counting method and the frequency of each allele number was also counted. The comparison between groups was operated with x2test,"a" equaling0.05as the inspection level. The correlation strength of the genotype, allele and RA was represented with the odds ratio (OR) and95%confidence intervals (confidence, intervals, CI). All statistical analyses were accomplished with SPSS16.0.Results:1.3genotypes in the SNP site is in accordance with the Hardy-Weinberg equilibrium (P>0.05)2. A marked difference is found between the genotype distribution and allele frequency of Fok I in VDR in the RAS group of the cases and the controls (P<0.05)3. The genotype distribution and allele frequency of Bsm I, Apa I in VDR in the RA group in the cases has no significant difference with that of the controls (P>0.05)Conclusion:The genic polymorphism Fok I in VDR is relevant to RA in Hunan Han population. The genotype of CC may be the genotype prevalence of RA. The genic polymorphism of Bsml, Apal may be independent of the susceptibility of RA. |
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