MICA gene and ankylosing spondylitis: linkage analysis via a transmembrane-encoded triplet repeat polymorphism |
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Authors: | K Goto M Ota S Ohno N Mizuki H Ando Y Katsuyama W P Maksymowych M Kimura S Bahram H Inoko |
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Institution: | Department of Ophthalmology, Yokohama City University School of Medicine, Kanagawa;Department of Genetic Information, Division of Molecular Life Science. Tokai University School of Medicine, Kanagawa;Department of Legal Medicine, Shinshu University School of Medicine, Nagano;Shonan Red Cross Blood Center, Kanagawa. Japan;Department of Medicine, University of Alberta, Edmonton, Canada;Basel Institute for Immunology. Switzerland |
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Abstract: | In order to address the possibility that the MICA gene located 47 kb upstream from HLA-B is involved in the pathogenesis of ankylosing spondylitis (AS), we have investigated microsatellite polymorphism in the transmembrane region of MICA in Caucasian patients with AS. The microsatellite allele consisting of 4 repetitions of GCT/AGC was present at significantly higher frequency in the patient group (Pc<0.0000001) than in the ethnically matched control group. However, the frequency of the (GCT/AGC)4 allele was significantly low in the B27-positive patients than in the B27-positive healthy controls (Pc=0.0145). These observations suggest that B27 itself remains the primary genetic marker for AS, although the significantly dissimilar pheno-type frequency of the (GCT/AGC)4 allele in B27-positive patients and healthy individuals may reflect the existence of other genetic factor(s) in the HLA-B27 haplotype involved in the development of AS. |
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Keywords: | ankylosing spondylitis MICA gene transmembrane region triplet repeat polymorphism |
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