Failure to confirm association between PDCD1 polymorphisms and rheumatoid arthritis in a Japanese population
Failure to confirm association between PDCD1 polymorphisms and rheumatoid arthritis in a Japanese population
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DOI：
10.1007/s10038-007-0145-2
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发表时间：
2007-06-01
影响因子：
3.5
通讯作者：
Kamatani, Naoyuki
中科院分区：
文献类型：
--
作者：
Iwamoto, Takuji;Ikari, Katsunori;Kamatani, Naoyuki
程序性细胞死亡1 （PDCD1）是维持外周耐受性所必需的负调节因子，是自身免疫性疾病发展的关键分子。尽管PDCD1基因多态性和单倍型被报道与类风湿关节炎（RA）相关，但后来的复制研究显示出相互矛盾的结果。在这里，我们分析了PDCD1与RA的关系，使用了大量日本RA患者和基于人群的对照。从1,504名RA患者和449名性别匹配的对照组中获得DNA样本。所有样品均采用TaqMan荧光5′核酸酶测定法对PDCD1上的三个snp （PD-1.1、PD-1.3和PD-1.5）进行基因分型。病例对照研究采用卡方检验，单倍型估计采用PENHAPLO程序。我们没有观察到RA之间PD-1.1或PD-1.5多态性的显著关联。据报道，PD-1.3与欧洲血统患者对RA的易感性有关，但在日本人群中无多态性。我们得出结论，在这里分析的PDCD1基因多态性与日本人群中的RA无关。
Programmed cell death 1 (PDCD1) is a necessary negative regulator to maintain peripheral tolerance and is a key molecule in the development of autoimmune diseases. Although PDCD1 gene polymorphisms and haplotypes were reported to be associated with rheumatoid arthritis (RA), replication studies later on showed conflicting results. Here, we analyzed the association of PDCD1 with RA using a large series of Japanese RA patients and population-based controls. DNA samples were obtained from 1,504 RA patients and 449 sex-matched controls. All samples were genotyped for three SNPs on PDCD1 (PD-1.1, PD-1.3 and PD-1.5) using the TaqMan fluorogenic 5' nuclease assay. Chi-square testing was performed for a case-control study, and the PENHAPLO program was used for haplotype estimation. We could not observe any significant association of PD-1.1 or PD-1.5 polymorphisms between RA. PD-1.3, which was reported to be involved in susceptibility to RA in patients of European descent, was non-polymorphic in the Japanese population. We conclude that polymorphisms in the PDCD1 gene analyzed here are not associated with RA in a Japanese population.