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A polymorphism rs17336700 in the PSMD7 gene is associated with ankylosing spondylitis in Chinese subjects
  1. Zhenmin Niu1,
  2. Rong Lei1,2,
  3. Jinxiu Shi1,
  4. Dazhi Wang1,2,
  5. Weihua Shou1,2,
  6. Zhimin Wang1,
  7. Yi Wang1,
  8. Zhiqin Wang1,
  9. Wei Huang1,2
  1. 1Chinese National Human Genome Center at Shanghai, Shanghai, China
  2. 2Rui Jin Hospital, School of Medicine, Shanghai Jiaotong Univesity, Shanghai, China
  1. Correspondence to Dr Wei Huang, Chinese National Human Genome Center at Shanghai, 250, Bi Bo Road, Shanghai 201203, China; huangwei{at}

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Ankylosing spondylitis (AS) is an inflammatory rheumatic disease and strongly associated with human leucocyte antigen (HLA)-B27.1 A genome-wide scan for AS revealed the linkage locus on many non-major histocompatibility complex (MHC) loci of chromosomes.2,,5 Among all non-MHC regions, we examined an 11cM region 16q23.1-24.1, with two announced positive STR markers: D16S515 and D16S516. Among the 101 genes in this region, proteasome 26S subunit non-ATPase 7 (PSMD7) was chosen as the only candidate gene because of its importance in the ubiquitin proteasome pathway (UPP). The UPP genes have been much studied in AS studies. Two MHC UPP genes: LMP2 and LMP7 were found to be associated with AS in Caucasian and Chinese populations.6,,8 Two recent reports found that protein or gene expression levels of some UPP subunits were higher …

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  • Funding This work was supported by grants from the Chinese National Natural Science Fund for Distinguished Young Scholars (30625019) and Shanghai Science and Technology Committee (09DZ2291900).

  • Ethics approval This study was conducted with the approval of the Ethics Review Committee Chinese National Human Genome Center at Shanghai.

  • Provenance and peer review Not commissioned; externally peer reviewed.