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)

In this clinical study, we have examined 10 patients with ulcerative colitis. The study group included 5 men and 5 women. The control group consisted of 6 patients with negative colonoscopic finding performed for differential diagnosis of the dyspeptic syndrome. Patients with ulcerative colitis were divided into two groups according to the clinical pattern, macroscopic endoscopic finding, and histological examination of the bioptic specimens. The Ist group of patients with active stage of ulcerative colitis, the IInd group of patients in remission, without clinical and endoscopic signs of disease activity. We have found that from the followed markers the greatest importance lies in the determination of the standard immunologic profile of the mucosa, the determination of activating markers HLA-DR+, CD69, CD122 and CD71 on T-lymphocytes and CD69 and CD71 on B-lymphocytes. The differences between the control group and the group of patients in active stage of the disease were statistically significant. Statistical significance was also found in some of the above-mentioned parameters when comparing the group of active disease and that one in remission (CD4/CD8 ratio, HLA-DR+, CD122 on T-lymphocytes). Our results imply that the changes in the target tissue contribute to more precise assessment and follow-up of therapeutic effect in non-specific inflammatory bowel disease.
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PMID:[Importance of determination of lymphocytes in intestinal mucosa biopsy specimens using flow cytometry in the evaluation of ulcerative colitis activity]. 1196 80

The complex genetics of IBD is characterized by more than one susceptibility locus, genetic heterogeneity, incomplete penetrance, and probable gene-gene and gene-environment interactions. Functional candidate gene association studies during the past few decades have revealed only modest associations between IBD and genetic variants in the HLA genes and a limited number of other genes that are involved in immune regulation and the inflammatory response. Important advances in IBD genetics research have come about from systematic genome searches for IBD loci. The identification of Crohn's disease-associated NOD2 genetic variants that appear to alter the innate immune response to bacteria is a seminal finding that perhaps is the greatest advance toward understanding the pathogenesis of IBD in decades. The future discovery of other IBD genetic risk factors, facilitated by the completion of the human genome sequencing and annotation, may allow the development of better therapies, possibly including preventive therapies, for patients with Crohn's disease and ulcerative colitis.
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PMID:The genetics of inflammatory bowel disease. 1212 44

The highly polymorphic nonclassical MHC class I chain-related (MIC) genes MICA and MICB encode stress inducible glycoproteins expressed on a variety of epithelial cells including intestinal cells. Interaction with the receptor NKG2D is likely to provide an important costimulatory signal for activation and proliferation of NK cells, activated macrophages and CD8 alphabeta and gammadelta T cells. Fifty-four MICA and 17 MICB alleles have been described to date. Although the functional significance of this polymorphism is not known, the high degree of nonconservative substitution, concentration to the putative ligand-binding site and recent observation that different MICA alleles bind to NKG2D with varying affinity has generated much interest. The MIC genes are attractive functional and positional candidate genes for inflammatory bowel disease susceptibility as a consequence of their position in the HLA region and expression on the gastrointestinal epithelium. We developed a robust, high-resolution PCR-SSP genotyping method that can be incorporated into the standard 'Phototyping' system and which effectively identifies 46 of 54 MICA alleles, and all 17 MICB alleles. We applied this system in combination with microsatellite genotyping of the exon 5 variable number of tandem repeats (VNTR) to the investigation of genetic susceptibility to the inflammatory bowel diseases, ulcerative colitis and Crohn's disease. We studied 248 patients with Crohn's disease, 329 with ulcerative colitis and 354 ethnically matched controls. Linkage disequilibrium patterns between HLA-B, MICA and MICB are presented. Analysis by individual allele or by multilocus haplotype failed to identify any significant disease associations.
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PMID:High resolution MIC genotyping: design and application to the investigation of inflammatory bowel disease susceptibility. 1239 11

Epidemiological studies on the spondyloarthritides have been hindered in the past by the lack of adequate classification criteria for the whole group of these diseases. Using the Amor and the European Spondyloathropathy Study Group (ESSG) criteria the total prevalence of such diseases has been found to be higher than estimated in the past. The prevalence of ankylosing spondylitis varies across populations, but closely parallels the frequency of HLA B27-associated subtypes. The lack of well established criteria for reactive arthritis and the varying expression of its clinical manifestations are the principal reasons for the under-reporting of the true prevalence and incidence of this type of spondyloarthritis. Few data exist on the prevalence and incidence of psoriatic arthritis. A recent European study on an inception cohort of patients having inflammatory bowel disease has evaluated the prevalence of spondyloarthritis using the ESSG criteria. Of the patients studied, 18% met these criteria. Undifferentiated spondyloarthritis is one of the most frequent spondyloarthritides. It also includes a number of different subtypes.
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PMID:Seronegative spondyloarthritides. 1247 70

Prediction of type 1 diabetes mellitus (IDDM) and its identification in preclinical period is one of the central problems in modern medicine. They are based comprehensive genetic, immunologic and metabolic evaluations. We observed four hundred seven first-degree relatives of patients with IDDM (240 families in which one of the children or one of the parents had IDDM) have been included in the study. The study of HLA-DQA1, HLA-DQB1 polymorphic alleles and DRB1 genes and their combinations. The genetic study included searching HLA loci (HLA-DQA1, HLA-DQB1 polymorphic alleles and DRB1 genes) loci. To evaluate the genetic risk two approaches we used: first--carrying predisposing HLA-DQ alleles and DRB1-genes and it's combination (mainly associated in Russian population was DRB1*04-DQB1*0302, DRB1*04-DQA1*0301, DQA1*0301-DQB1*0302, DQA1*0301-DQB1*0302 and four susceptible alleles in A- and B- chains (Asp 57-, Arg 52+)) and second--IBD (identity by descent), in Russian population HLA-identical for 2 haplotypes sibs had risk of development of IDDM of 18%, for 1 haplotype--3%, for 0 haplotype-0.9%. The antibodies (ICA, IAA) prevalence rate has not depended on availability of predisposing HLA-DQ alleles and DRB1-genes and haploidentity of normal sibs and sibs with IDDM. However, GADA prevalence rate in groups having high predisposed alleles has been noticed as significantly higher (28.6%) comparing with 7.7% in groups that had no predisposing alleles (p < 0.05). The comparison of antibodies prevalence rate to sibs HLA-identity has shown the significant increase or GADA prevalence rate in group of siblings identical for one haplotype comparing with non-identical sibs (27.3% and 0% respectively, p < 0.001).
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PMID:[Genetic and immunologic aspects of type 1 diabetes mellitus]. 1263 78

This article is a personal account of the author's involvement in the discovery of HLA associations with ankylosing spondylitis; Reiter disease; acute anterior uveitis; and the arthropathies associated with psoriasis, chronic inflammatory bowel disease, and sarcoidosis.
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PMID:Discovery: HLA and disease. 1281 62

Inflammatory bowel disease (IBD) includes two clinical subtypes: Crohn disease (CD) and ulcerative colitis (UC). The general prevalence is about 1.0-2.0 % in Western countries. It is predominantly regarded as a multifactorial disorder involving environmental factors and polygenic defects. The view was confirmed by a lot of evidences from clinical attributions and animal models, especially from epidemiological investigations. So the etiological study of IBD has been focused on searching for susceptibility genes by positional cloning, which consists of two steps: linkage analysis and association analysis. Linkage analysis has been an important method of searching for susceptibility genes to polygenic diseases as well as single-gene disorders. IBD, as a polygenic disease, has been widely investigated by linkage analysis for susceptibility gene since 1996. The paper reviewed 38 articles, which covered almost all original researches in relation to IBD and linkage analysis. So far, several loci, such as 16q, 12q, 6p and 3p, have been identified by the studies. The most striking is 16q12 (IBD1), which linked only with CD not UC in the majority of studies. Association analysis, as one essential step for positional cloning, is usually carried out by genotyping candidate genes selected by means of linkage analysis or other methods, for figuring out the frequencies of alleles and comparing the frequencies between IBD group and healthy control group to identify the specific allele. It has been established that IBD is implicated in immune disorder. So the studies were centered on the genes of NOD2/CARD15, HLA-II, cytokine, cytokine receptor and adhesion molecule. This paper reviewed 14 original articles on association between NOD2 and IBD that have been published since 2001. All results, with the exception of one report from a Japanese group, provide evidences that the three kinds of variants of NOD2 are susceptibility factors for IBD. This article also comprehensively analyzed 18 original researches of HLA gene polymorphism in IBD. We found extensive discrepancy among the conclusions and a novel hypothesis was put forward to explain the discordance. Most studies published recently on association between IBD and cytokine gene polymorphism were reviewed.
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PMID:Progress in searching for susceptibility gene for inflammatory bowel disease by positional cloning. 1291 95

Genetic factors, among which the HLA class II coding genes, are implicated in IBD pathogenesis. When considering the ethnic heterogeneity of the studied population and the IBD clinical heterogeneity, UC appears more dependent to HLA genes than CD. UC and HLA genes: HLA DR 4 gene would protect from UC. HLA DR2 gene, particularly the DRB 1 * 1502 allele, is predisposing for more severe forms necessitating a corticotherapy, while DRB 1 * 0301 allele is associated with less needs for surgery. CD and HLA genes: HLA DR 7 gene and the DRB 3 * 0301 allele predispose to CD, while HLA DR 2 and DR 3 genes may be protective factors. Thus, for MC patient, the DRB 1 * 0301/DQB*0201 haplotype might be associated with less occurrence of fistulas or severe forms requiring immunosuppressive therapy.
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PMID:[The role of major histocompatibility complex genes in the pathogenesis of chronic inflammatory bowel diseases]. 1293 47

We report a case of fulminant Crohn's colitis that occurred following non-myeloablative allogeneic stem cell transplantation for Hodgkin's lymphoma. Adoptive transfer of inflammatory bowel disease by haematopoietic cells is recognised in several animal models of inflammatory bowel disease and remission of Crohn's disease has been reported in patients who have received a bone marrow transplant. However, adoptive transfer of Crohn's disease susceptibility leading to phenotypic manifestation of the disease after transplantation has not been previously reported. Having ruled out an infective cause of a colitis in this case, we speculated that adoptive transfer of Crohn's disease may have occurred and performed a genetic analysis of known susceptibility loci for significant donor-recipient mismatches. The donor and recipient had several haplotype mismatches in HLA class III genes at the IBD3 locus. In addition, the donor (but not the recipient) had a polymorphism of the 5' UTR of NOD2/CARD15 that may be associated with Crohn's disease. This case highlights the question of whether adoptive transfer of Crohn's disease can occur between allogeneic stem cell transplant donor and recipient, in a similar fashion to that reported for other autoimmune diseases. This report should also stimulate debate regarding the need for stem cell transplant donor screening for inflammatory bowel disease.
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PMID:Fulminant Crohn's colitis after allogeneic stem cell transplantation. 1530 9

The B7/CD28 pathway is essential for initiating antigen-specific T-cell activation. LFA-1 (CD11a/CD18) is required for sufficient migration into inflammatory tissue. The aim of this study was to evaluate the role of B7 and LFA-1 in inflammatory bowel disease. Immunohistological single and double staining (PAP/APAAP) with monoclonal antibodies against HLA I/II, CD4, CD8, CD28, B7-1, B7-2, LFA-1 and CD68 were performed in tissue samples from patients with crohn's disease (n = 15), ulcerative colitis (n = 14), colorectal carcinoma (n = 5) and FAP (n = 3). The expression of B7-1 and B7-2 was generally much higher in ulcerative colitis and crohn's disease than in colorectal carcinoma and FAP. In crohn's disease multinucleated gigant cells in the granulomas express B7-1 and B7-2. Double staining showed a higher B7-1/B7-2 coexpression for CD4+ than for CD8+ T cells. In colitis ulcerosa and crohn's disease LFA-1 positive leucocytes showed a high coexpression of B7-1 and B7-2 in contrast to CD68 positive macrophages. These data suggest that overexpression of B7-1 and B7-2 on LFA-1 positive Leucocyts seems to play an important role in the pathogenesis of inflammatory bowel disease.
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PMID:[Overexpression of B7-1 amd B7-2 by LFA-1 positive lymphocytes in chronic inflammatory bowel diseases]. 1451 46


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