Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P01889 (ankylosing spondylitis)
 5,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

HLA/Bf haplotypes were examined in a large three-generation Newfoundland family with a high incidence of Graves' disease. In that family Graves' disease was inherited in association with the haplotype HLA Aw24, Bw39 in some instances and with HLA B8-containing haplotypes in other instances. As all seven members of the family who suffered from Graves' disease were homozygous for the Bf S allele, the study for Bf was uninformative. However, the examination of other HLA/Bf haplotypes disclosed some interesting associations. One-hundred-and-five out of 168 HLA-A, -B, -Bf haplotypes were Bf S. Although numerically deviant, no unusual HLA B/Bf associations were observed. Bf F entered the family only once. A new finding is the association between HLA B27 and Bf S1; the haplotype entered the family once and was passed on to eight family members over three generations. Bf S1 was previously reported in association with HLA B12 or W21. None of these family members had ankylosing spondylitis. The Bf allele F1 entered the family three times, always in association with HLA B18.
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PMID:HLA/Bf haplotypes in a Newfoundland family. 58 Dec 40

Mo66 is an allele of the HLA-B locus, which is demonstrated by HLA typing of 2 000 unrealted individuals and the members of eight informative families. Mo66 is a rare antigen, with a frequency of 0.65 % in the Languedocian population. Mo66 shows a strong association desequilibrium with HLA-A3. The identification of Mo66 is difficult, without a monospecific serum, because this antigen is united by cross-reactions above all with HLA-B13, but also with HLA-Bw40, HLA-B27, HLA-B12 and HLA-B7. The presence of an anti-Mo66 antibody in some apparently anti-HLA-B27 monospecific sera can provoke some errors in the diagnosis of ankylosing spondylitis and related diseases.
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PMID:[Mo66, a new allele of the HLA-B locus. Preliminary note (author's transl)]. 67 28

Significant associations have been found between the HLA antigens or haplotypes and certain diseases and deficiencies. These associations have opened up new areas of clinical investigation. In man, associations have been shown between the presence of Hodgkin's Disease and a number of cross-reacting HLA types (BW5, BW15, BW18), between systemic Lupus erythematosus and HLA type BW15 in Caucasians and BW35 in blacks, between HLA B37 and ankylosing spondylitis in Caucasians, between HLA B8 and gluten-sensitive enteropathy and between HLA B13 and psoriasis, a disease having a strong hereditary element. In ophthalmology, Shin and Becker have shown that the prevalence of HLA B7 and B12 antigens was significantly higher in patients with primary open-angle glaucoma than in the non-glaucomatous population. The purpose of this communication is to report the presence of HLA B27 antigen in the mother and two siblings with keratoconus.
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PMID:HLA antigens and keratoconus. 91 Nov 19

A 3.5-kb HLA class I fragment is polymorphic in an ankylosing spondylitis (AS) family. All B27 AS patients show the 3.5-kb band, which is also present in B12 AS patients in this family. When hybridized with an HLA-B-specific probe, the polymorphic band is revealed in B12 patients, but not in B27 patients.
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PMID:Taq I polymorphism of HLA class I genes in an ankylosing spondylitis family. 290 13

In addition to the usual parameters for haematologic an rheumatologic diseases folic acid, vitamin B12, and ferritin were investigated by radioisotope studies. In some groups folic acid was lower compared to controls, and it is possible that the disease causes the deficiency of folic acid absorption and distribution. Vitamin B12 was only slightly decreased, thus, the values may be assumed to be close to normals. Transferrin ankylosing spondylitis is similar to that of controls, however, transferrin increases in rheumatoid arthritis and in mixed groups containing patients various diseases. Finally, the deficiency of folic acid absorption can be assumed to be caused by the symptoms of the disease, whereas in the case of inflammatory diseases and in mixed group transferrin increased.
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PMID:Radioisotope binding capacity of serum in folic acid, vitamin B12 and ferritin in haematologic and rheumatologic patients. 616 34

In an attempt to find common immunogenetic features in B27+ and B27- ankylosing spondylitis patients, the B7 cross reactant antigens (BW22, B27, B40, B12, B13) were systematically tested by a lymphocytotoxicity method in 43 patients suffering from ankylosing spondylitis according to the Rome criteria. These included 25 caucasian patients (20 B27+, 5 B27-), 15 north african patients (11 B27+, 4 B27-) and 3 west indian mulattos (all B27-). The frequency of the B7 cross reactant antigens, when compared to controls, was not increased in the B27- patients as a whole, nor in any of the 3 populations studied. Our negative results are in agreement with those of similar published studies in homogeneous populations. They do not support the hypothesis of a direct involvement of HLA B antigens as cofactors favouring ankylosing spondylitis.
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PMID:[Study of HLA antigens A and B and their cross reactions in B27-negative ankylosing spondylarthritis]. 661 Sep 19