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Nobuhisa Mizuki, Masao Ota, Kazuro Yabuki, Yoshihiko Katsuyama, Hitoshi Ando, Gerassimos D. Palimeris, Evangelia Kaklamani, Massimo Accorinti, Paola Pivetti-Pezzi, Shigeaki Ohno, Hidetoshi Inoko; Localization of the Pathogenic Gene of Behçet’s Disease by Microsatellite Analysis of Three Different Populations. Invest. Ophthalmol. Vis. Sci. 2000;41(12):3702-3708.
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purpose. Behçet’s disease (BD) is known to be associated with HLA-B51 in many ethnic groups. However, the pathogenic gene
responsible for BD is as yet unknown. To localize the critical region
of the pathogenic gene, microsatellite markers distributed around the HLA-B gene were investigated. The BD patients
studied were of three ethnic origins: Japanese, Greek, or Italian.
methods. The total group consisted of 172 BD patients, of whom were 95 Japanese,
55 Greek, and 22 Italian. Eight polymorphic microsatellite markers
distributed within 1100 kb of the HLA-B gene were analyzed
using PCR and subsequent automated fragment detection by
results. Among the eight markers, allele 348 of the MIB microsatellite was
remarkably common in all three BD populations (Japanese, Pc = 0.000014; Greek, Pc =
0.00047; Italian, Pc = 0.11). However, HLA-B51 was found to be the marker most strongly associated
with BD in each population (Japanese, Pc =
0.000000000017; Greek, Pc = 0.00000032; Italian, Pc = 0.0074). In genotypic differentiation between
the patients and controls, only HLA-B51 was found to be
significantly associated with BD in all three populations.
Stratification analysis suggested that significant associations of BD
with MICA and other microsatellites resulted from a linkage
disequilibrium with HLA-B51.
conclusions. These results suggest that the pathogenic gene of BD is HLA-B51 itself and not other genes located in the vicinity
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