HLA-B27 subtypes in Asian patients with ankylosing spondylitis. Evidence for new associations

HLA-B27 subtypes in Asian patients with ankylosing spondylitis. Evidence for new associations

The aim of this study was to investigate the contribution of the different B27 subtypes to ankylosing spondylitis (AS) susceptibility. The polymerase chain reaction (PCR) in combination with the sequence-specific oligonucleotide probes (SSOs) was used to analyse the polymorphism in exon 2 and 3 of H...

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Bibliographic Details
Published in:Tissue antigens Vol. 45; no. 3; p. 169
Main Authors: López-Larrea, C, Sujirachato, K, Mehra, N K, Chiewsilp, P, Isarangkura, D, Kanga, U, Dominguez, O, Coto, E, Penã, M, Setién, F
Format: Journal Article
Language:English
Published: England 01-03-1995
Subjects:
Amino Acid Sequence
Base Sequence
Case-Control Studies
DNA - blood
DNA Probes, HLA
Gene Frequency
Genes, MHC Class I - genetics
HLA-B27 Antigen - classification
HLA-B27 Antigen - genetics
Humans
India
Molecular Sequence Data
Point Mutation
Polymerase Chain Reaction
Protein Conformation
Spondylitis, Ankylosing - ethnology
Spondylitis, Ankylosing - genetics
Thailand
Thailand
India
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Summary:The aim of this study was to investigate the contribution of the different B27 subtypes to ankylosing spondylitis (AS) susceptibility. The polymerase chain reaction (PCR) in combination with the sequence-specific oligonucleotide probes (SSOs) was used to analyse the polymorphism in exon 2 and 3 of HLA-B27 in two Asian groups with different genetic HLA structures: Indian (I) and Thai (T) populations. The same number of AS patients (45) and healthy B27 positive donors (n = 17) from both populations were analysed in order to ascertain the B27 subtypes. Three different findings can be concluded from this study: 1) B*2707 has been found to be associated with AS in both populations. This association has not been previously reported in either ethnic group. 2) B*2704 is strongly associated with AS in the Thai patients (91% in AS vs. 47% in C; RR = 11.5; EF = 0.83). In contrast, B*2704 was found with similar frequency in Asian Indians AS patients and controls (41% in AS vs. 41% in C.). 3) B*2706 was found overrepresented in control populations and absent in AS patients (0% in AS vs. 47% in C.; pc < 10(-6)) showing the maximum value of protective fraction (PF = 1). The B*2706 negative association with AS has not been previously described in other ethnic groups and could indicate a protective effect of this subtype on AS susceptibility. The B*2706 allele has two changes relative to B*2704 at residue 114 (His to Asp) and 116 (Asp to Tyr) in the pockets D/E. The importance that these differences can play in the pathogenesis of AS are discussed.
ISSN:0001-2815
DOI:10.1111/j.1399-0039.1995.tb02436.x