ヤマナカ ヒサシ
  山中 寿
   所属   医学部 医学科(東京女子医科大学病院)
   職種   客員教授
論文種別 原著
言語種別 英語
査読の有無 査読なし
表題 Failure to confirm association between PDCD1 polymorphisms and rheumatoid arthritis in a Japanese population.
掲載誌名 正式名:Journal of human genetics
略  称:J Hum Genet
ISSNコード:(1434-5161)1434-5161(Linking)
巻・号・頁 52(6),pp.557-560
著者・共著者 Iwamoto Takuji, Ikari Katsunori, Inoue Eisuke, Toyama Yoshiaki, Hara Masako, Yamanaka Hisashi, Tomatsu Taisuke, Momohara Shigeki, Kamatani Naoyuki
発行年月 2007
概要 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.
DOI 10.1007/s10038-007-0145-2
PMID 17468813