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)

Of more than 500 diseases or syndromes studied for HL-A markers, more than 40 are known to be associated with an allele of class I, II, or III. Seven are linked to the HL-A region: six are recessive (idiopathic hemochromatosis, C2, C4A, and C4B deficiencies, congenital and late-onset deficiencies) and one is dominant (spinocerebellar ataxia). In addition, insulin-dependent diabetes mellitus is also linked to HL-A with more than one single locus. HL-A typing is of practical interest for diagnosis of ankylosing spondylitis by B27 antigen determination and for prevention of idiopathic hemochromatosis by genotyping of siblings of the index case. Prenatal diagnosis of 21-OH deficiency by genotyping fetal cells permits genetic counseling. Indeed, the discovery of the relationship between HL-A and disease can be considered a new approach to medical genetics. Extensive use of HL-A technology will probably allow better prediction of risk and may elucidate the mechanisms of certain diseases. For the first time the study of one single immunogenetic system may have a significant effect on public health through the possibility of wide-scale prevention.
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PMID:HL-A and disease. 300 51

Within the last 7 years, HLA and disease studies have made it clear that most of the diseases previously known to be HLA-A- or B-associated do in fact show stronger associations with HLA-D/DR antigens. This observation strengthens the assumption that Ir and/or Is determinants are responsible for these associations in agreement with the fact that many of these diseases are characterized by autoimmune phenomena. However, some diseases, ankylosing spondylitis in particular, still show stronger associations with HLA-ABC than with DR antigens. Among the conditions which have been shown to be HLA-associated more recently, four deserves special mention: (i) maternal immunization against the Zwa antigen because this is a good candidate for an antigen-specific Ir gene action; (ii) IgA deficiency in blood donors because this is a non-antigen-specific immunodeficiency; (iii) idiopathic hemochromatosis and (iv) congenital adrenal hyperplasia due to 21-OH deficiency because immune mechanisms are unlikely to be involved. HLA studies and new genetic methodology have significantly advanced our knowledge about the inheritance of some diseases. Thus, HLA-B27 or a B27-associated HLA factor confers a dominant susceptibility to ankylosing spondylitis. HLA plays a definite and strong role in the susceptibility to IDDM, but simple genetic models (dominant, recessive, and intermediate) have been made unlikely on the basis of HLA results; the hypothesis that there are two different susceptibility genes within the HLA system still remains viable, but the demonstration of clinical heterogeneity and/or (better) of different pathogenetic pathways for DR3- and DR4-associated IDDM is required to substantiate it.
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PMID:HLA and disease 1982--a survey. 633 68

The frequency and severity of ankylosing spondylitis (AS) show a male preponderance, and androgenic steroids have been implicated in its etiology. Some reports have indicated that serum androgen levels are slightly elevated relative to estrogen levels in patients with AS as compared to controls. In more recent studies, however, serum testosterone, 17 beta-estradiol, and androstenedione levels did not significantly differ between AS patients and controls. Moreover, testosterone levels measured directly in serum can be spuriously elevated, especially in patients using phenylbutazone. Elevated serum levels of the adrenal steroids 17 alpha-hydroxyprogesterone and dehydroepiandrosterone (DHEA) sulfate have been found in patients with AS. These elevations might be explained by partial 11 beta- or 21-hydroxylase deficiencies, but may also be secondary to an enhanced stress response. In vitro studies as well as studies in animals and humans indicate that DHEA enhanced, and 17 beta-estradiol and progesterone inhibit, the cell-mediated immune response, which may play a role in the pathogenesis of AS. Oral estrogen therapy in female patients and human chorionic gonadotrophin injections in male patients with AS, increased the 17 beta-estradiol/testosterone ratio and resulted in a moderate clinical improvement. In conclusion, serum testosterone levels are not elevated in patients with AS. Therefore testosterone probably has no role in the perpetuation of long-standing AS and provides no basis for antiandrogenic treatment. Cross-sectional case-control studies, however, cannot clearly distinguish etiological factors from secondary disease effects, especially when blood sampling occurs many years after the onset of AS. Consequently, the role of sex steroids in the pathogenesis is still insufficiently elucidated.
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PMID:Androgens and ankylosing spondylitis: a role in the pathogenesis? 1041 29