Association of the programmed cell death 1 (PDCD1) gene polymorphism with ankylosing spondylitis in the Korean population.
Association of the programmed cell death 1 (PDCD1) gene polymorphism with ankylosing spondylitis in the Korean population.
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DOI：
10.1186/ar2071
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发表时间：
2006
影响因子：
4.9
通讯作者：
Yang HI
中科院分区：
文献类型：
--
作者：
Lee SH;Lee YA;Woo DH;Song R;Park EK;Ryu MH;Kim YH;Kim KS;Hong SJ;Yoo MC;Yang HI
PD-1（程序性死亡1）分子是T细胞的负调节因子。据报道，PDCD 1（程序性细胞死亡1）在高加索人的系统性红斑狼疮和类风湿性关节炎中具有遗传相关性。然而，该基因与强直性脊柱炎（AS）的相关性尚未见报道。本研究调查了韩国人群样本中PD-1多态性和单倍型与AS的相关性。在一项病例对照关联研究中，对95例AS患者和130例健康对照者进行了两种单核苷酸多态性PD-1.5 C/T和PD-1.9 T/C基因分型。PD-1.9多态性的T等位基因在韩国男性AS人群中的频率高于韩国男性对照（21.0% vs 6.9%，比值比1.89，95%置信区间1.483至2.408）。AS患者CT单倍型（PD-1.5 C/T和PD-1.9 T/C）的频率（19%）高于对照组（5.4%）（比值比1.83，95%可信区间1.559 ~ 2.521）。在韩国AS患者中证实了PD-1多态性。结果表明PD-1基因多态性与AS易感性之间存在遗传关联。
The PD-1 (programmed death 1) molecule is a negative regulator of T cells. PDCD1 (programmed cell death 1) has been reported to have a genetic association in systemic lupus erythematosus and rheumatoid arthritis in Caucasians. However, there are no reports on the association between this gene and ankylosing spondylitis (AS). The present study investigated the association of the PD-1 polymorphisms and the haplotypes with AS in a Korean population sample. In a case-control association study, two single-nucleotide polymorphisms, PD-1.5 C/T and PD-1.9 T/C, were genotyped in 95 AS patients and 130 healthy controls. The T allele of the PD-1.9 polymorphism was more frequent in the Korean male population with AS than in the Korean male controls (21.0% versus 6.9%, odds ratio 1.89, 95% confidence interval 1.483 to 2.408). The frequency of the CT haplotype (PD-1.5 C/T and PD-1.9 T/C) was higher in the AS patients (19%) than the controls (5.4%) (odds ratio 1.83, 95% confidence interval 1.559 to 2.521). The PD-1 polymorphism was demonstrated in Korean AS patients. The results suggest a genetic association between the PD-1 polymorphism and susceptibility to AS.
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影响因子：
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作者：
Prokunina, L;Padyukov, L;Alarcón-Riquelme, M
通讯作者：
Alarcón-Riquelme, M
影响因子：
30.5
作者：
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通讯作者：
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作者：
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作者：
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通讯作者：
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