Allelic variation at the TAP 1 locus influences disease phenotype in HLA-B27 positive individuals with ankylosing spondylitis.
The objective was to determine the role of the TAP 1 gene in influencing the phenotype of disease in adult patients with ankylosing spondylitis (AS). The distribution of TAP 1 gene alleles was determined using the PCR RFLP method and restriction enzymes Bcl I and Acc I. The study population included 115 HLA-B27 positive patients with well-documented AS and 41 HLA-B27 positive normal controls. No significant difference in distribution of TAP 1 alleles was noted in comparisons of all AS patients with normal controls. However, AS patients with extraspinal disease were noted to have a significantly increased prevalence of the TAP 1B allele (17.0%) as compared to AS patients without extraspinal disease (2.9%) (P = 0.005) or normal controls (1.9%) (P = 0.005). Polymorphism at the TAP 1 locus may influence disease outcome in patients with AS.
Maksymowych
W P
WP
Department of Medicine, University of Alberta, Edmonton, Canada.
Tao
S
S
Li
Y
Y
Wing
M
M
Russell
A S
AS
D000071181:ATP Binding Cassette Transporter, Subfamily B, Member 2; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000328:Adult; D000368:Aged; D000483:Alleles; D001483:Base Sequence; D017931:DNA Primers; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D015796:HLA-B27 Antigen / Q000032:analysis*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010641:Phenotype; D013167:Spondylitis, Ankylosing / Q000235:genetics* / Q000276:immunology
D000071181:ATP Binding Cassette Transporter, Subfamily B, Member 2; D018528:ATP-Binding Cassette Transporters; D017931:DNA Primers; D015796:HLA-B27 Antigen; C073119:TAP1 protein, human