Analysis Of PPARGC1B, RUNX3, TBKBP1, JARID1A, JMY And PTGER4Polymorphisms In Chinese Han Patients With Ankylosing Spondylitis:a Case-Control Study

Background:Susceptibility to and severity of ankylosing spondylitis (AS) are largely genetically determined. PPARGC1B, RUNX3, TBKBP1, JARIDIA, JMY and PTGER4have recently been found to be associated with AS in patients of western European descent. Our purpose is to examine the influence of PPARGCIB, RUNX3, TBKBP1, JARIDIA, JMY and PTGER4polymorphisms on the susceptibility to and the severity of ankylosing spondylitis in Chinese ethnic majority Han population.Methods:Blood samples are drawn from396AS patients and404unrelated healthy controls. All the patients and the controls are Han Chinese and the patients are HLA-B27positive. The AS patients are classified based on the severity of the disease. Twenty-five tag single nucleotide polymorphisms (tagSNPs) in PPARGC1B, RUNX3, TBKBP1, JARID1A, JMY and PTGER4are selected and genotyped. Frequencies of different genotypes and alleles are analyzed among the different severity AS patients and the controls.Results:After Bonferroni correction, the rs7379457SNP in PPARGC1B, the rs2284336SNP in JARIDIA, the rs16876619and rs16876657SNPs in JMY are associated with susceptibility of AS. The rs7379457SNP in PPARGC1B, the rs1395621SNP in RUNX3, the rs9438876SNP in RUNX3, the rs8070463SNP in TBKBP1, the rs11062357SNP in JARIDIA, the rs2607142SNP in JMY and rs10440635in PTGER4are related to severity of AS. Haplotype analyses indicate PTGER4is related to susceptibility to AS; JARIDIA and JMY are related to severity of AS.Conclusions:PPARGC1B, JARID1A, JMY and PTGER4are related to susceptibility to AS. PPARGC1B, RUNX3, TBKBP1, JARID1A, JMY and PTGER4are related to severity of AS in Chinese Han population.