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Allele variants HLA-B*13:02:01:34 and HLA-B*27:01:01:02 differ from HLA-B*13:02:01:01 and HLA-B*27:04:01 by a single nucleotide, respectively.
Variants of a diploid lymphoid cell line that show a loss of HLA-B27 antigen occur randomly in time and independently of exposure to the alloantiserum used for their isolation. From these and previous findings of variant stability, inducibility by mutagens, and the absence of linked variation, we colclude that most HLA variants arise by mutation. The mutation rate for HLA-B27 loss is 8 x 10(-7) per cell per generation.
HLA-B27 exemplifies an evolutionary trade-off between protection against infection and susceptibility to inflammatory disease. To investigate its long-term population history, this study examined three HLA-B27-tagging variants-rs116488202, rs4349859, and rs116666910-in present-day populations from UK biobank and 1000 Genomes Project, and in 15,836 ancient West Eurasian individuals. The estimated frequency of HLA-B27 reached 49.0% approximately 8500 years before present, then declined progressively to 3.9% in the present-day reference population. Comparison with genome-wide association study (GWAS) data for ankylosing spondylitis (AS) showed that HLA-B27-linked alleles conferring increased disease risk had negative selection coefficients, indicating sustained selection against HLA-B27 over the past 10,000 years. The decline coincided with major Holocene changes in settlement and subsistence patterns, microbial exposure, and enteric infection, which may have increased the inflammatory costs of HLA-B27. Because previous paleopathological studies have largely been limited to identifying advanced skeletal manifestations of AS, this ancient genetic study may provide currently the most sensitive population-level record of an otherwise largely undetectable, epidemic-scale disease burden in antiquity. These findings support the hypothesis that HLA-B27-associated spondyloarthritis was sufficiently prevalent and severe to influence human evolution in prehistoric West Eurasia.
HLA-B*27:277 differs from HLA-B*27:05:02:05 by a single substitution in exon 6.
HLA-B*27:05:64 differs from HLA-B*27:05:02:05 by one nucleotide substitution in codon -21 in exon 1.
Histocompatibility antigens were determined in 38 patients with frozen shoulder and 216 normal blood-donors. HLA-B27 was significantly more common in patients with frozen shoulder (42%) than in the controls (10%). The distribution of the other 19 histocompatibility antigens was similar in the patient and control groups. This result may be associated with the suggested immunological pathogenesis of the condition.
Of the many associations between histocompatibility antigens and human diseases a prominent one is that between HLA-B27 and inflammatory arthropathies. Hypotheses to explain this association include the B27 gene being linked to a specific immune-response gene required for disease expression and the B27 antigen acting via molecular mimicry with a microorganism or as a microorganism receptor. Alternatively, the HLA-B27 gene might be closely related to a gene which influences bone formation. The finding of a significant association between B27 and Forestier's disease, a disease characterised by abundant new bone formation, supports such a hypothesis.
HL-A typing was performed on 97 patients with pustular psoriasis. HLA-B27 was found increased for the combined three subgroups: localized psoriasis of palms and soles, acrodermatitis continua and generalized pustular psoriasis, who were associated with a high incidence of arthritis. These subgroups have this in common with Reiter's disease indicating a link between the entities. In persistent palmo-plantar pustulosis an increased incidence of HLA-Bw35 was found. HLA-B13, HLA-B17 and HLA-Bw37 which are found markedly increased in psoriasis vulgaris were in acrodermatitis continua, generalized pustular psoriasis and persistent palmo-plantar pustulosis either absent or not increased as compared with the control population. 7 of 30 patients with localized psoriasis of palms and soles had one of these antigens. Our findings confirm that psoriasis vulgaris and pustular psoriasis as such, seem to be different aetiological entities. Some patients with localized psoriasis of palms and soles may be true psoriatics which besides their psoriasis have a tendency to develop a pustular reaction in their palms and soles similar to persistent palmo-plantar pustulosis.
HLA-typing was performed in 149 patients with essential hypertension, 86 males and 63 females. In 66 patients with significantly elevated serum levels of immunoglobulins, HLA-B27 was increased to 18%, from 8% in the controls (P less than 0.007). This was not significant when correcting the P-value for the number of antigens analyzed, but confirms reports of an association of this antigen with serum levels of immunoglobulins. HLA-Bw15 was found to be increased two-fold in patients with a family history of hypertension (P corrected less than 0.05) and in patients with autoantibodies (not significant). This is discussed in relation to the increase of Bw15 in juvenile diabetes and in Systemic Lupus Erythematosus, diseases in which vascular damage also occurs.
To determine the hereditary pattern of acute anterior uveitis (AAU) 12 families with 2 cases of AAU in each family were given a routine eye examination which included serological determination of HLA antigens. Members of four families underwent x-ray examination of the lumbosacral spine. Of the 23 cases with AAU examined, 19 had the antigen B27. The genes determining B27 and a2 were inherited together in 14 instances and the gene determining Cwl in 10 of these 14. The lymphocytes of the HLA identical siblings of the three families studied by the mixed lymphocyte culture test did not react against each other. Sacroilities was seen in 62.5% of cases with familial AAU and in 58.6% of their relatives. It is concluded that HLA-B27 is linked with genes predisposing the carrier to familial AAU, which is closely related to the rheumatic group of diseases.
Lymphocytotoxic antibodies (LCTAB) were sought in sera of patients with rheumatic diseases and in family members. Patients with SLE and cutaneous necrotizing venulitis and family members of JRA patients had an increased frequency of LCTAB; JRA patients and family members of SLE patients did not. The only association between LCTAB and the HLA phenotype of persons with LCTAB was a decreased frequency of LCTAB in individuals with HLA-B27.
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