RESUMO
Objective:To investigate the correlation between single nucleotide polymorphism ( SNP ) of rs7517847 and rs10489629 on IL-23R gene and susceptibility of ankylosing spondylitis in Jilin.Methods:IL-23R gene polymorphisms of 188 cases on ankylosing spondylitis were detected by polymerase chain reaction-restriction fragment length polymorphism ( PCR-RFLP ) , compared with those of 100 cases of healthy control group.Results:The frequency distribution differences ,between AS group and comparison group of separate genotype and the allele on two SNPs (rs7517847 and rs10489629) both showed statistical significance (P<0.05).Meanwhile, by the assumed genetic way , compared homozygous mutant GG of rs 7517847 with TG+TT, compared homozygous mutant AA of rs10489629 with GA+GG,such frequency distribution difference between the above two groups also showed statistical significance ( P<0.05).Conclusion:Polymorphisms about IL-23R gene of the rs7517847 and rs10489629 are both associated with susceptibility of AS in Jilin.The risk of AS will be increased if the person both with G/A allele and GG/AA genotype , which may be one of susceptive factors by AS.
RESUMO
cholesterol 7α-hydroxylase gene ( CYP7A 1 ) plays a key role in the catabolism of cholesterol into bile acids. To investigate whether the A-204C polymorphism in CYP7A1 gene affects the gene expression,using luciferase as the reporter gene, four recombinants were constructed by inserting forward or reverse sequence with A or C allele at the polymorphism site into the promoter-less vector pGL3-basic. The constructs were then transfected into four cell lines and the luciferase activity of each expression vector was examined by dual luciferase reporter gene assay system. The results showed that activities of the forward sequence of both genotypes were higher than that of reverse sequence. Promoter activity of the recombinants with A allele was about one third lower than that with C allele. According to the analysis with TRANSFAC database, there may exist a Zic3 binding site when there is the C allele at -204. Our study indicates that the A-204 C polymorphism in CYP7A1 promoter region decreases its promoter activity and thus represses the gene expression, possibly due to the lack of a potential Zic3 binding site.