Ankylosing spondylitis susceptibility loci defined by genome-search meta-analysis

Young Ho Lee, Young Hee Rho, Seong Jae Choi, Jong Dae Ji, Gwan Gyu Song

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    31 Citations (Scopus)


    In genome scans of ankylosing spondylitis (AS), with the exception of the HLA loci, linkage has not been easy to replicate across studies. We applied the genome-search meta-analysis (GSMA) method to genome scans of AS and spondyloarthropathy (SpA) to assess evidence for linkage across studies. Three AS genome scans and one SpA scan including 430 families with 1,048 affected individuals were used. All four original genome scans mainly analyzed Caucasian families. Seven bins had both Psumrnk and Pord<0.05, suggesting these bins most likely contain AS-linked loci; bin 6.2, 6.1, 6.3, 16.3, 19.2, 17.1, and 16.4. The GSMA produced significant genome-wide evidence for linkage on chromosome 6p22.3-6p21.1 (Psumrnk=0.000003), including the HLA locus. In addition to the HLA-B27 locus, strong linkage evidence was found on chromosome 6p25.3-6p22.3 (Psumrnk=0.0013) and 6p21.1-6p15 (Psumrnk=0.043). In the GSMA of four genome scans including one SpA study, the bin 9.4 (9q21.32-9q33.1) was newly found for linkage (Psumrnk=0.043, Pord=0.013). This GSMA added the evidence of the HLA loci as the greatest susceptibility factor to AS and showed evidences of chromosome 6, 16q, 19, 17p, and 9q as non-HLA susceptibility loci.

    Original languageEnglish
    Pages (from-to)453-459
    Number of pages7
    JournalJournal of Human Genetics
    Issue number9
    Publication statusPublished - 2005 Sep


    • Ankylosing spondylitis
    • Genome scan
    • Linkage
    • Meta-analysis
    • Spondyloarthropathy

    ASJC Scopus subject areas

    • Genetics
    • Genetics(clinical)


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