韩国人强直性脊柱炎的遗传研究证实了与白种人患者报告的 ERAP1 和 2p15 的关联。
Genetic studies of ankylosing spondylitis in Koreans confirm associations with ERAP1 and 2p15 reported in white patients.
机构信息
Hanyang University Hospital for Rheumatic Diseases, Seoul 133-792, Republic of Korea.
出版信息
J Rheumatol. 2011 Feb;38(2):322-4. doi: 10.3899/jrheum.100652. Epub 2010 Nov 1.
OBJECTIVE
Investigators from the Australo-Anglo-American Spondyloarthritis Consortium have reported additional genes associated with ankylosing spondylitis (AS) susceptibility including IL1R2, ANTXR2, and gene deserts at 2p15 and 21q22. We evaluated these new candidate genes in a large cohort of Korean patients with AS.
METHODS
A group of 1164 patients with AS and 752 healthy controls were enrolled for our study. Eight single-nucleotide polymorphisms (SNP) were analyzed to define genetic association with AS by MassARRAY system.
RESULTS
Significant positive associations of AS with endoplasmic reticulum aminopeptidase 1 SNP, rs27037 (p = 1.31 × 10(-4)), and rs27434 (p = 4.59 × 10(-6)), were observed. The rs10865331 of gene desert at 2p15 also showed a significant association with AS (p = 4.63 × 10(-5)).
CONCLUSION
This is the first confirmation in a nonwhite population that genetic polymorphisms of rs27037, rs27434, and rs10865331 are associated with AS, implicating common pathogenetic mechanisms in Korean and white patients with AS.
目的
澳大拉西亚-盎格鲁-撒克逊脊柱关节炎联合会的研究人员报告了与强直性脊柱炎（AS）易感性相关的其他基因，包括 IL1R2、ANTXR2 和 2p15 和 21q22 基因荒漠。我们在一组韩国 AS 患者中评估了这些新的候选基因。
方法
本研究共纳入 1164 例 AS 患者和 752 例健康对照者。通过 MassARRAY 系统分析 8 个单核苷酸多态性（SNP），以确定与 AS 的遗传相关性。
结果
内质网氨肽酶 1 SNP(rs27037，p=1.31×10(-4))和 rs27434(p=4.59×10(-6))与 AS 呈显著正相关。2p15 基因荒漠的 rs10865331 也与 AS 呈显著相关（p=4.63×10(-5)）。
结论
这是首次在非白人人群中证实 rs27037、rs27434 和 rs10865331 的遗传多态性与 AS 相关，提示韩国和白人 AS 患者存在共同的发病机制。
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