Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021390 (inflammatory bowel disease)
 23,302 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

It has been shown that genetic factors within the HLA region are involved in the etiology of several diseases. For some of these, the existence of another genetic factor has been suggested, although not proven. A possible way to give evidence for another locus (G) is to show that the disease and an unlinked HLA-marker locus (M) do not segregate independently. The usual lod-score method, which assumes monogenic inheritance, is inappropriate for this test. We propose a correction of this method for performing a linkage analysis between the G and M loci, taking into account the role of HLA. A very simple way of using the HLA information is by modifying, for each individual of a pedigree, the penetrance values at the G locus according to the number of HLA haplotypes shared with the index case. These penetrance values are inferred from the observed IBD (identity-by-descent) distribution of HLA haplotypes in a sample of affected sib-pairs. The advantage of using this empirical distribution is that it is not based on any assumptions concerning the mode of inheritance at the HLA-linked locus. This correction method was established using a two-locus model with restrictive assumptions. Its value is discussed for various sets of parameters in more general and realistic two-locus models using simulations.
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PMID:HLA-associated diseases: a new method for performing linkage analysis with other markers than HLA. 659 41

The results of segregation analyses in 75 families where the proband had ankylosing spondylitis, are presented. Of the 278 adult, living first degree relatives, approximately 85% cooperated in the study. Clinical and radiographical examinations were performed and HLA typing was conducted. The results were in agreement with our hypothesis that ankylosing spondylitis is part of a syndrome where different genetic factors interact. Such known factors are HLA B27 associated disease susceptibility, susceptibility to psoriatic arthropathy and susceptibility to entero-arthropathy. Radiographical sacro-iliitis was restricted to HLA B27 positive relatives, and was more frequently found in relatives to probands with psoriasis than in relatives to probands without psoriasis. Environmental factors (intestinal bacteria) are known to trigger the disease at least in some persons, and we have postulated that all or most of them have the predisposition to develop disease. Thus, the syndrome has a multifactorial etiology. The phenotypic expressions of the different genetic predispositions involved, include sacro-iliitis, psoriasis, acute anterior uveitis, peripheral arthropathy and inflammatory bowel disease. We suggest the descriptive name HEREDITARY MULTIFOCAL RELAPSING INFLAMMATION (HEMRI) for this syndrome. Ankylosing spondylitis, psoriatic arthropathy and entero-arthropathy may be regarded as clinical sub-types of the syndrome.
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PMID:Family studies in Bechterew's syndrome (ankylosing spondylitis) III. Genetics. 660 2

Lymphocyte subpopulations in peripheral blood (PBL) and intestinal mucosa (IML) of 10 patients with inflammatory bowel disease (IBD) were compared with those of 11 non-IBD controls. PBL were separated on Ficoll/hypaque gradients, and IML were isolated by incubation in dithiothreitol, EDTA, and collagenase. These methods yielded cells of good viability and with intact HLA A and B-antigens. T-cells, identified by neuraminidase-treated sheep RBC rosettes and non-specific esterase staining, comprised approximately 91% of the IML from normal mucosa of all groups. B-cells, identified by erythrocyte-antibody-complement rosettes and surface immunoglobulins, were only 7% of these IML populations. Cell yields were two-fold or more greater from abnormal IBD mucosa, with T-cells ranging from 55 to 95% and B-cells from 2 to 36%. The percentage of Fc receptor bearing cells was low in all specimens. By these methods, T-lymphocytes predominated in intestinal mucosa of both IBD and non-IBD patients, but there is marked increase in the percentage of B-cells isolated from abnormal mucosa in IBD.
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PMID:Lymphocyte subpopulations of intestinal mucosa in inflammatory bowel disease. 696 6

The clinical presentation and outcome of 32 children with primary sclerosing cholangitis (PSC) are reviewed, the largest North American series. The majority of patients were diagnosed in their second decade (median age: 13 years). Four children presented before the age of 2 years, but none in the neonatal period. Seventeen patients had inflammatory bowel disease (IBD), all with colitis, 14 ulcerative colitis, and 3 Crohn's disease. Eight patients presented with chronic liver disease before clinical onset of IBD. Only 8 of 32 patients were jaundiced at presentation. Fifteen of 32 had a normal serum alkaline phosphatase (ALP) level at presentation. Nine children presented with features similar to those of autoimmune hepatitis. Cholangiography was performed in all cases and classified by a scoring system specifically developed for pediatric patients. Intrahepatic disease predominated; in only three cases a common bile duct stricture was identified requiring stenting. Findings on the initial liver biopsy were classified according to Ludwig's criteria for staging PSC: there were 15 biopsies in stages 1 to 2 and 17 biopsies stages 3 to 4. HLA class I and II antigens were determined in 27 patients. An increased incidence of HLA B8 and DR2(15) but not DRw52a (DRB3*0101) was found. Anti-neutrophil cytoplasmic antibody (ANCA) was positive in 10 of 24 patients tested. Survival analysis indicated that a later age at presentation, splenomegaly, and prolonged prothrombin time (PT) at presentation were significant contributors to the prediction of poor outcome (i.e., death or listing for transplantation). Liver transplantation was successfully performed in seven children. Physicians must maintain a high index of suspicion of PSC in any child or young adult presenting with chronic liver disease, especially in the presence of IBD, even with a normal serum alkaline phosphatase level.
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PMID:Primary sclerosing cholangitis in 32 children: clinical, laboratory, and radiographic features, with survival analysis. 759 Jun 57

The occurrence of musculoskeletal manifestations (including synovitis, chest wall arthroosteitis and multifocal osteomyelitis) in association with severe acne, palmoplantar pustulosis and perhaps with some presentations of psoriasis, have been described by many authors in the past 30 years. These different multifaceted descriptions have been designated by a variety of terms. More recently, a possible link between these conditions and spondarthritides has also been underlined by a slightly increased prevalence of HLA B27 and occasional occurrences of sacroiliitis, chronic inflammatory bowel disease and possibly psoriasis. An acronym, the SAPHO syndrome (which stands for Synovitis, Acne, Pustulosis Hyperostosis and Osteitis) is proposed for this group of diseases because of the similarity of musculoskeletal manifestations in patients with severe acne and pustulosis. The clinical, epidemiological, pathophysiological, immunogenetic and diagnostic aspects, as well as the management of this syndrome are reviewed.
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PMID:[SAPHO syndrome]. 797 35

The diagnosis of primary sclerosing cholangitis in association with autoimmune hepatitis was made in this case after the discovery of inflammatory bowel disease prompted a cholangiogram. Immunosuppressive therapy with cyclosporine prior to ERCP resulted in a significant decrease in serum aminotransferase. Liver histology and autoimmune serologies favored a diagnosis of AIH, while cholangiographic findings suggested PSC. A review of similar cases describing the simultaneous occurrence of AIH and PSC is presented. The shared autoimmune characteristics of the two diseases, such as serum autoantibodies, peripheral lymphocyte subsets and HLA haplotypes, raises the question of whether similar mechanisms of immune dysfunction can result in both processes. The existence of a PSC-AIH overlap syndrome may help provide the linkage between the two diseases.
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PMID:A 39 year old man with chronic hepatitis. 801 66

Primary sclerosing cholangitis (PSC) remains a disease of unknown etiology. The close association of PSC and inflammatory bowel disease (IBD), especially ulcerative colitis (UC), has been reconfirmed in numerous studies. Much has been learned about the pathogenesis, although the specific cause remains unknown. Copper overload and chronic hepatic bacterial infection have virtually been excluded as causes of PSC. Cytomegalovirus and reovirus remain under investigation. Familial clustering and HLA subtype similarities are seen in PSC with and without IBD. The finding of antineutrophil cytoplasmic antibodies (ANCA) in patients with PSC and those with UC suggests immunological features in the pathogenesis of PSC. Collected series of patients have better characterized clinical features of PSC. Endoscopic retrograde cholangiopancreatography (ERCP) and percutaneous transhepatic cholangiography (PTC) have provided both diagnostic features and means of therapeutic intervention. Treatment of PSC is symptomatic (pruritus control and vitamin deficiency correction); or experimental (D-penicillamine, ursodeoxycholic acid [UDCA], methotrexate, or corticosteroids). Liver transplantation remains the ultimate treatment for end-stage PSC. Statistical analyses of clinical and laboratory variables in PSC help to determine prognosis and proposed timing for transplantation to achieve maximal longevity and quality of life. PSC affects middle-aged people and is expensive to treat over the natural course of the disease, making it an economically and medically important disease.
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PMID:Primary sclerosing cholangitis. 805 38

In present study, the subsets of activated (HLA-DR+) lamina propria T cells were evaluated in ulcerative colitis (UC) mucosa using three-color flow cytometry. Activated suppressor-inducer T cells (T(si)), helper T cells (Th) and cytotoxic T cells (Tc) were increased in affected mucosa of UC patients not given steroid hormones (SH) compared with in the normal control mucosa. It was supposed that the increase of activated T(si) was the secondary change of inflammation, because this change was demonstrated in non-IBD colitis too. However, the increase of activated Th and Tc might indicate the immunological abnormalities related to the pathogenesis of UC, because these changes were demonstrated only in UC, not in non-IBD colitis. On the other hand, no increase of these activated T cells were demonstrated in affected mucosa of UC patients given SH, perhaps reflecting the immuno-suppressive effect of SH.
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PMID:[Evaluation of activated T cells among isolated colonic mucosal lymphocytes in ulcerative colitis--using three color flow cytometry]. 834 70

Newly described distinct associations of HLA class II genes with ulcerative colitis (UC) (DR2) and Crohn's disease (CD) (DR1/DQ5) provide strong evidence for genetic heterogeneity of susceptibility between these two forms of inflammatory bowel disease. A familial distribution of antineutrophil cytoplasmic antibodies (ANCAs, a subclinical marker of UC) in UC families has further implied the existence of heterogeneity within UC. To test the hypothesis that the heterogeneity within UC indicated by ANCAs has a genetic basis that resides within the HLA region, we studied 89 UC cases and an ethnically matched control group (n = 50). Serological and molecular typing techniques were applied to define HLA class II genes (DR, DQ). ANCAs were detected using an enzyme-linked immunosorbent assay, and positive values were confirmed by indirect immunofluorescence. We observed that ANCA-positive UC patients (n = 70) had a significantly increased frequency of DR2 compared with ANCA-negative controls (n = 46) (44% vs 22%, P = 0.01). In contrast, the frequency of DR2 in ANCA-negative UC cases (21%) was virtually identical to that in controls (22%, P = 0.9). Furthermore, the ANCA-negative UC patients had an increase in the DR4 allele compared with ANCA-positive UC (P = 0.004). Thus, with the combination of a subclinical marker (ANCAs) and molecular genetic markers, genetic heterogeneity has been demonstrated within UC: ANCA-positive UC associated with DR2, and ANCA-negative UC likely associated with DR4.
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PMID:Ulcerative colitis: a genetically heterogeneous disorder defined by genetic (HLA class II) and subclinical (antineutrophil cytoplasmic antibodies) markers. 834 90

Extraintestinal autoimmune disorders are associated with ulcerative colitis in selected patients and lend support to the theory of immune-mediated injury in inflammatory bowel disease. Rarely, alopecia areata has been associated with ulcerative colitis, and familial aggregation and an HLA association have been reported for both disorders. The occurrence of both alopecia and ulcerative colitis in a mother and son are reported with a detailed investigation of antineutrophil cytoplasmic antibodies and HLA alleles in this family. Treatment with the immunosuppressive agent cyclosporine proved beneficial in the child leading to remission of the ulcerative colitis and nascent growth of scalp and body hair.
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PMID:Ulcerative colitis and total alopecia in a mother and her son. 846 7


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