强直性脊柱炎（AS）的易感性在很大程度上是遗传决定的。JARID1A,最近发现JMY和PTGER4与西欧血统患者的AS有关。我们的目标是研究JARID1A的影响，JMY,和PTGER4多态性对中国多数汉族人群强直性脊柱炎易感性和严重程度的影响。这项工作可以引导临床医生更早地进行干预。从396名AS患者和404名无关的健康对照中抽取血样。AS患者和对照组均为汉族。根据疾病的严重程度对AS患者进行分类。JARID1A中的13个标签单核苷酸多态性（tagSNPs），选择JMY和PTGER4并进行基因分型。在不同严重程度的AS患者和对照之间分析了不同基因型和等位基因的频率。JARID1A中的rs2284336SNP，JMY中rs16876619和rs16876657SNP与AS易感性相关。JARID1A中的rs11062357SNP，JMY中的rs2607142SNP和PTGER4中的rs10440635与AS的严重程度相关。单倍型分析表明PTGER4与AS的易感性有关；JARID1A和JMY与AS的严重程度有关。
Susceptibility to ankylosing spondylitis (AS) is largely genetically determined. JARID1A, JMY and PTGER4 have recently been found to be associated with AS in patients of western European descent. We aim to examine the influence of JARID1A, JMY, and PTGER4 polymorphisms on the susceptibility to and the severity of ankylosing spondylitis in Chinese ethnic majority Han population. This work can lead the clinical doctors to intervene earlier. Blood samples were drawn from 396 AS patients and 404 unrelated healthy controls. Both the AS patients and the controls are Han Chinese. The AS patients are classified based on the severity of the disease. Thirteen tag single nucleotide polymorphisms (tagSNPs) in JARID1A, JMY and PTGER4 are selected and genotyped. Frequencies of different genotypes and alleles are analyzed among the different severity AS patients and the controls. The rs2284336 SNP in JARID1A, the rs16876619 and rs16876657 SNPs in JMY are associated with susceptibility of AS. The rs11062357 SNP in JARID1A, the rs2607142 SNP in JMY and rs10440635 in PTGER4 are related to severity of AS. Haplotype analyses indicate PTGER4 is related to susceptibility to AS; JARID1A and JMY are related to severity of AS.
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