Abstract
Background
HLA-B27 is strongly associated with ankylosing spondylitis (AS), and its subtypes differ in their ethnic distribution. Studies worldwide have shown that B∗2701, B∗2702, B∗2704, B∗2705, B∗2707, B∗2708, B∗2714, B∗2715, and B∗2719 are AS-predisposing subtypes, whereas B∗2706 and B∗2709 are reported to be negatively associated with AS. The aim of this study was to investigate HLA-B27 polymorphism and clinical features according to subtypes in Korean patients with AS.
Methods
Two hundred thirty samples from patients with impression of AS were analyzed by polymerase chain reaction using a sequence-specific primers (PCR-SSP) method. Pel-Freez SSP Unitray HLA-B∗27 kit (Dynal Biotech, USA) including 16 primers was used to define HLA-B27 subtypes from B∗2701 to B∗2735.
Results
Among 230 samples from patients with impression of AS, 171 were HLA-B27 positive, and among 160 patients diagnosed as AS, 154 (96.3%) were HLA-B27 positive, while 17 patients not diagnosed as AS were HLA-B27 positive. Among 154 HLA-B27 positive patients with AS, 142 (92.2%) were typed as B∗2705 and 9 (5.8%) were typed as B∗2704. Three cases (1.9%) could be interpreted only variously because of their HLA-B27 homogeneous alleles. Between B∗2705 and B∗2704, no specific HLA-B27 subtype appeared to contribute to AS susceptibility (P=0.60). Difference in clinical features between B∗2705 and B∗2704 could not be found in this study (P>0.05).
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Table 1.
AS | non AS | Total | P value∗ | |
---|---|---|---|---|
HLA-B27 (+) | 154 (96.3%) | 17 (24.3%) | 171 | <0.0001 |
HLA-B27 (–) | 6 (3.7%) | 53 (75.7%) | 59 | |
Total | 160 | 70 | 230 |
Table 2.
Allele | HLA-B27 positive patients (n=171) | |||
---|---|---|---|---|
AS (n=154) | non AS (n=17) | Total (n=171) | P value† | |
B∗2704 | 9 (5.8%) | 0 (0.0%) | 9 (5.3%) | 0.60 |
B∗2705 | 142 (92.2%) | 16 (94.1%) | 158 (92.4%) | |
B∗2720 | 0 (0.0%) | 1 (5.9%) | 1 (0.6%) | |
Others | 3 (1.9%)∗ | 0 (0.0%) | 3 (1.8%) |
∗ Others includes 2 cases that were B∗2704 & B∗2705/B∗2704 & B∗2728/B∗2705 & B∗2715/B∗2710 & B∗2704/ B∗2710 & B∗2704/B∗2710 & B∗ 2705/B∗2710 & B∗2715/B∗2710 & B∗2728 and 1 case that was B∗2704 & B∗2715/B∗2704 & B∗2731/B∗2715 & B∗2731. These 3 cases had HLA-B27 homogeneous alleles, which were identified by HLA-B low resolution typing.
Table 3.
Clinical features | AS (n=154) | ||||
---|---|---|---|---|---|
B∗2705 (n=142) | B∗2704 (n=9) | Others∗ (n=3) | Total (n=154) | P value∗ | |
Sex (M/F) | 114/28 | 6/3 | 3/0 | 123/31 | |
Age (mean yr) | 30.1 | 32.1 | 28 | 30.0 | |
Spondyloarthritis | 142 | 9 | 3 | 154 | |
(100%) | (100%) | (100%) | (100%) | ||
Peripheral arthritis | 41 | 1 | 3 | 45 | 0.45 |
(28.9%) | (11.1%) | (100%) | (29.2%) | ||
Uveitis | 20 | 1 | 2 | 23 | 1.00 |
(14.1%) | (11.1%) | (66.7%) | (14.9%) | ||
Enthesitis | 10 | 1 | 0 | 11 | 0.50 |
(7.0%) | (10.0%) | (0.0%) | (7.1%) | ||
Family history | 6 | 0 | 0 | 6 | 1.00 |
(4.2%) | (0.0%) | (0.0%) | (3.9%) |
Table 4.
Clinical features | AS | ||
---|---|---|---|
HLA-B27 (+) (n=154) | HLA-B27 (–) (n=6) | P value∗ | |
Sex, M/F | 114/28 | 5/1 | |
Age (mean yr) | 30.0 | 28 | |
Spondyloarthritis | 154 (100%) | 6 (100%) | |
Peripheral arthritis | 45 (29.2%) | 1 (16.7%) | 0.67 |
Uveitis | 23 (14.9%) | 1 (16.7%) | 1.00 |
Enthesitis | 11 (7.1%) | 0 (0.0%) | 1.00 |
Family history | 6 (3.9%) | 0 (0.0%) | 1.00 |