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

Recent developments in genetic tissue typing have altered concepts of ankylosing spondylitis (AS) or variants of this spondylitic arthritis. It is now apparent that AS is separate and distinct from rheumatoid arthritis; and the term "rheumatoid" should be avoided except as it applies to the latter, usually characterized by rheumatoid factor or nodules and symmetrical arthritis of peripheral joints. Classical definitions of AS require X-ray evidence of sacroiliitis and/or restriction of chest expansion. Recent studies suggest that many patients, especially women, may have symptoms of AS without typical roentgenographic or clinical findings. Use of the HL-A B27 genetic test is useful for identifying AS patients. Radioisotope bone or joint scanning techniques further augment present diagnostic capabilities. Atypical AS may be a very common form of morbidity among patients with back pain in the United States. Since patients have a tendency to form osseous reankylosis after total hip replacement, it is especially important for orthopedic surgeons to identify incipient AS and related disorders. Inappropriate treatment or procedures may be avoided by use of these newer clinical tools in the evaluation of patients with chronic back or skeletal pain.
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PMID:Ankylosing spondylitis and its variants. A review of recent developments for orthopedic surgeons. 60 74

The association between histo-compatibility antigens and disease is reviewed, in particular that between HLA-B27 and spondylitic disorders, i.e., ankylosing spondylitis, Reiter's arthritis, psoriatic arthritis, and ankylosing hyperostosis. We determined whether the presence of HLA-B27 predicted specific radiographic findings and, conversely, whether specific radiographic changes predicted antigenic status. The prevalences of the HLA-B27 antigen in our patients were: ankylosing spondylitis, 100%; Reiter's arthritis, 93%; psoriatic arthritis, 55%; and ankylosing hyperostosis, 12%. The only specific radiographic finding associated with B27 positivity was severe spondylitis in psoriasis.
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PMID:HLA-B27 associated arthropathies. 62 70

To establish the prevalence of peripheral arthritis, radiographic sacroiliitis, and ankylosing spondylitis in patients with inflammatory bowel disease, 58 consecutive patients suffering from ulcerative colitis (UC) and 51 with Crohn's disease (CD) underwent a detailed rheumatological examination. In addition, all patients were screened for the presence of the antigen HLA B27. Peripheral arthritis was found in 14 (8 UC, 6 CD) patients (12.8%); radiographic sacroiliitis was diagnosed in 11 (5 UC, 6 CD) (10.1%), of whom 10 were asymptomatic; and ankylosing spondylitis was diagnosed in 2 UC and 2 CD patients (3.7%). 18.9% of the UC and 3.9% of the CD patients were HLA B27 positive. One of the 11 patients with radiographic sacroiliitis and 2 of the 4 with ankylosing spondylitis had the HLA B27 antigen. Peripheral arthritis, radiographic sacroiliitis, and ankylosing spondylitis are apparently frequent manifestations in patients suffering from inflammatory bowel disease. Asymptomatic radiographic sacroiliitis in these patients appears to differ from idiopathic ankylosing spondylitis, both clinically and genetically. Evaluation of subjective rheumatological complaints, necessary for a confident diagnosis of ankylosing spondylitis, according to the New York criteria is difficult during a flare-up of the inflammatory bowel process, as was shown in 4 CD cases with marked limitation of lumbovertebral function and chest expansion, but no radiological abnormalities of the SI joints.
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PMID:Ankylosing spondylitis and inflammatory bowel disease. II. Prevalence of peripheral arthritis, sacroiliitis, and ankylosing spondylitis in patients suffering from inflammatory bowel disease. 62 1

A study was made, in co-operation with several gastroenterology and rheumatology centres, of the clinical and genetic characteristics (HLA B27) of 50 patients suffering from both inflammatory bowel disease (38 Crohn's disease (CD), 12 ulcerated colitis (UC)) and ankylosing spondylitis (AS), the latter diagnosis being established according to the New York criteria. 20 CD (52.6%) and 8 UC (66.7%) patients were HLA B27 positive. The presence of HLA B27 was studied in relation to clinical parameters, such as first occurrence of symptoms of AS or inflammatory bowel disease (IBD), a history of peripheral arthritis, iridocyclitis, and a positive history of AS or IBD. Our patients were found to have heterogeneous clinical features: on one side of the spectrum a group of cases was distingiushed with the typical characteristics of idiopathic AS, often being HLA B27 positive. On the other side a smaller group of HLA B27 negative patients was observed, with severe intestinal inflammatory pathology, lacking most of the typical clinical features of idiopathic AS ('secondary' form of AS). Finally, between these two extremes a group of patients was found with less pronounced clinical or genetic characteristics. These different clinical and histocompatibility patterns suggest a mixed aetiopathogenesis of AS in IBD patients. Such a 'syndrome' of AS might harbour both idiopathic AS and forms of AS 'secondary' to the intestinal inflammatory pathology.
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PMID:Ankylosing spondylitis and inflammatory bowel disease. III. Clinical characteristics and results of histocompatibility typing (HLA B27) in 50 patients with both ankylosing spondylitis and inflammatory bowel disease. 62 2

White individuals who are HLA B27-positive have an increased risk of developing ankylosing spondylitis or related diseases. HLA typing can be used in counseling relatives of persons with spondylitis, if the limitations of presently available data are recognized.
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PMID:Histocompatibility typing and the counseling of families with ankylosing spondylitis. 65 78

In a study of 34 American black patients with primary ankylosing spondylitis, 18 were found to be HLA-B27-negative. Of these, 10 possessed HLA-B7 (55.6%) compared to 23.7% of 59 B27-negative black controls (P less than 0.025, relative risk = 4). On comparing these 10 B7-positive patients (group I) with 16 B27-positive black patients (group II), a difference in mean age at onset of disease was found: 33.6 years in group I and 22.2 years in group II (P less than 0.005). In addition, a family history of ankylosing spondylitis was absent in group I patients but present in 6 patients in group II (P = 0.034). These findings indicate an association between HLA-B7 and ankylosing spondylitis in American blacks and suggest that these patients who lack B27 but possess B7 represent a subgroup of patients with this disease.
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PMID:A subgroup of ankylosing spondylitis associated with HLA-B7 in American blacks. 66 73

A study comparing 12 patients with ankylosing spondylitis (AS) to 25 with osteitis condensans ilii (OCI), referred to a rheumatic disease center, was carried out to determine whether OCI represents a varient of AS in women. In the group with OCI, chronic lumbodorsal pain was present in 9, 36%, a 'fibrositis' syndrome in 6, 24%, and 16, 64% had recurrent episodes of polyarthralgia. A definite arthritis with effusion developed in 10 patients, 40%. No patient with OCI had iritis or colitis, whereas 4 patients with AS had iritis and four had colitis. Radiographs of the spine showed no evidence of spondylitis in the OCI group. Of the 25 patients with OCI, only 2, 8% were HLA B27 positive compared with 11 of 12 patients with AS, 92%. These results suggest that OCI is not a variant of AS in women.
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PMID:Comparison of osteitis condensans ilii and ankylosing spondylitis in female patients: clinical, radiological and HLA typing characteristics. 67 May 38

Seronegative spondyloarthritides (Reiter's syndrome, ankylosing spondylitis, or psoriatic arthritis) was diagnosed in 24 of 30 patients with severe heel pain. Most of the patients were carriers of the antigen HLA B27. Talalgia was frequently the first symptom of disease. Heel surgery is contra-indicated during the inflammation phase, since it may cause local aggravation and risk of ankylosis of the talocalcaneal articulation. Other causes of heel pain include tendon chondrocalcinosis, local tuberculous infection, and nodular tendinitis caused by a partial rupture of the tendon. On the other hand, severe talagia was rarely found in rheumatoid arthritis, and no case was related to the presence of tophi or xanthomas of the Achilles tendon.
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PMID:Talalgia. A review of 30 severe cases. 67 39

An attempt was made to determine whether a relationship exists between ankylosing spondylitis (AS) and hyperparathyroidism (HP). Twenty patients with definite AS, studied for biochemical evidence of HP, did not show consistent abnormalities in serum calcium, phosphorus, alkalinephosphatase, or parathyroid hormone levels or in bone-density measurements. Reviewing roentgenograms of 39 patients with HP showed one patient with sacroiliitis, and one of the 28 hyperparathyroid patients tissue-typed as HLA B27-positive. Both AS and HP are independent entities that have no causative or pathological relationship to each other.
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PMID:Ankylosing spondylitis and hyperparathyroidism. 67 7


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