Abstract
HLA-B27 has an established relationship with the development of ankylosing spondylitis (AS). After reviewing the HLA-B genotype from 407 Chinese subjects (318 patients and 89 sex-matched controls), we found that 252 patients and 32 controls were HLA-B27(+) and that HLA-B*27:04 was the dominant HLA-B27 subtype (N = 224). In all participants, HLA*27:04 homozygous were only detected in two patients. In the HLA-B27(+) group, HLA-B40 was observed in 51 cases and one control (p < 0.05, OR = 7.87, 95% CI 1.05–59.0); of these, the most genotype was HLA-B*27:04/B*40:01(N = 38). Two hundred thirty-nine patients' clinical information was recorded. Cases with HLA-B27/B46 had more peripheral joint involvement (OR = 3.95, 95% CI 1.77–8.79) in HLA-B27(+) AS. HLA-B*15:02 may be a significant risk element to peripheral joint involvement (p < 0.05) in HLA-B27(−) patients. Therefore, we believe HLA-B*40:01, HLA-B*46:01, and HLA-B*15:02 can be the test indicators for AS diagnostic value.
Highlights
Human leukocyte antigen (HLA)-B27 is the most critical gene in ankylosing spondylitis (AS)
After reviewing the HLA-B genotype from 407 Chinese subjects (318 patients and 89 sex-matched controls), we found that 252 patients and 32 controls were HLA-B27(+) and that HLA-B∗27:04 was the dominant HLA-B27 subtype (N = 224)
How about HLA-B27 heterozygote with other HLA-B alleles in AS? Our studies aimed to evaluate the influence of heterozygous HLA-B27 on the clinical manifestations of AS patients
Summary
Human leukocyte antigen (HLA)-B27 is the most critical gene in ankylosing spondylitis (AS). About 90–95% of AS cases were HLA-B27 positive, while only 1–2% of HLA-B27 positive persons can develop to AS [1, 2]. 45 HLA-B27 subtypes, like B∗27:02, B∗27:10, and B∗27:15, were found to be associated with AS, and their distribution varied in different populations [4, 5]. B∗27:04 is the primary subtype in the Chinese Han population [6], whereas the Caucasian people are dominated by the B∗27:05 [4]. Previous research found homozygous B∗27:04 can affect AS susceptibility but not its clinical manifestations and functional disability [7, 8]. How about HLA-B27 heterozygote with other HLA-B alleles in AS? Our studies aimed to evaluate the influence of heterozygous HLA-B27 on the clinical manifestations of AS patients How about HLA-B27 heterozygote with other HLA-B alleles in AS? Our studies aimed to evaluate the influence of heterozygous HLA-B27 on the clinical manifestations of AS patients
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