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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 …
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.
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