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JARID1A、JMY 和 PTGER4 多态性与中国汉族强直性脊柱炎患者相关:一项病例对照研究。

JARID1A, JMY, and PTGER4 polymorphisms are related to ankylosing spondylitis in Chinese Han patients: a case-control study.

机构信息

Department of Orthopaedics, Chinese People's Liberation Army General Hospital, Beijing, China.

出版信息

PLoS One. 2013 Sep 19;8(9):e74794. doi: 10.1371/journal.pone.0074794. eCollection 2013.

Abstract

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.

摘要

强直性脊柱炎(AS)的易感性在很大程度上是由遗传决定的。最近发现 JARID1A、JMY 和 PTGER4 与西欧裔 AS 患者有关。我们旨在研究 JARID1A、JMY 和 PTGER4 多态性对中国汉族人群 AS 易感性和严重程度的影响。这项工作可以促使临床医生更早地进行干预。从 396 例 AS 患者和 404 名无关健康对照中抽取血液样本。AS 患者和对照组均为汉族。AS 患者根据疾病严重程度进行分类。选择并检测了 JARID1A、JMY 和 PTGER4 中的 13 个标签单核苷酸多态性(tagSNP)。分析了不同严重程度的 AS 患者和对照组之间不同基因型和等位基因的频率。JARID1A 中的 rs2284336 SNP、JMY 中的 rs16876619 和 rs16876657 SNP 与 AS 的易感性相关。JARID1A 中的 rs11062357 SNP、JMY 中的 rs2607142 SNP 和 PTGER4 中的 rs10440635 与 AS 的严重程度相关。单体型分析表明 PTGER4 与 AS 的易感性有关;JARID1A 和 JMY 与 AS 的严重程度有关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a5e/3777963/ddb1b58f1459/pone.0074794.g001.jpg

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