國家衛生研究院 NHRI:Item 3990099045/3162
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    题名: Association of the MSX2 gene polymorphisms with ankylosing spondylitis in Japanese
    作者: Furuichi, T;Maeda, K;Chou, CT;Liu, YF;Liu, TC;Miyamoto, Y;Takahashi, A;Mori, K;Ikari, K;Kamatani, N;Kurosawa, H;Inoue, H;Tsai, SF;Ikegawa, S
    贡献者: Division of Molecular and Genomic Medicine
    摘要: Several genes have been implicated in the etiology of ankylosing spondylitis (AS); however, the significance of these genes except HLA-B27 remains to be elucidated. In this study, we examined the association of AS with novel candidate genes and previously reported genes other than HLA-B27. We examined a total of 45 single nucleotide polymorphisms (SNPs) in 15 genes by a sequential screening. We first genotyped 170 Japanese AS patients and 896 controls for the SNPs (first screen). Then, we genotyped eight SNPs with P < 0.05 in the first screen for 108 additional Japanese patients (second screen). We checked the replication of the association of the most significant SNP by genotyping 219 Taiwanese AS patients and 185 controls. When the first and second screens were combined, four SNPs showed nominal significance of P < 0.05. An intronic SNP (IVS1 + 996G > A) in MSX2, a novel candidate gene, showed the most significant association (P = 0.0030). The association was not replicated in our Taiwanese population; however, there was the same trend with the Japanese population in the allelic frequency distribution of the SNP. In the genes previously reported to have association with AS, only one synonymous SNP, c.963T > G in ANKH, showed a marginal association in the Japanese population (P = 0.045).
    关键词: Genetics & Heredity
    日期: 2008-05
    關聯: Journal of Human Genetics. 2008 May;53(5):419-424.
    Link to: http://dx.doi.org/10.1007/s10038-008-0265-3
    JIF/Ranking 2023: http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=NHRI&SrcApp=NHRI_IR&KeyISSN=1434-5161&DestApp=IC2JCR
    Cited Times(WOS): https://www.webofscience.com/wos/woscc/full-record/WOS:000255742600006
    Cited Times(Scopus): http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=43449128388
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