Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011849 (diabetes)
 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We have investigated the properdin factor B (BF) locus as a possible marker for Type 1 diabetes. The frequencies of the four BF alleles were determined among 70 Type 1 diabetics with onset before age 18 years. The frequency of BF F1 among the diabetics was increased compared with 206 controls (15.7 vs 3.4%). The relative risk (RR) associated with BF F1 was 5.30. The suggestion that BF is most strongly associated with onset of diabetes under 10 years of age was not supported. HBLA 18 was increased (RR = 4.91) and B7 was decreased in frequency (RR = 0.41) among the 62 diabetics tested compared with 238 controls. An association was observed between HLAB 18 and BF F1 among the diabetics. A study of 12 families in which BF*F1 was segregating suggested that BF*F1 and HLAB*18 are components of a haplotype associated with Type 1 diabetes in this population and that both haplotypes of an affected parent may contribute to the development of Type 1 diabetes.
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PMID:The HLAB*18,BF*F1 in haplotype in type 1 diabetes. 695 65

The Japan Diabetes Society (JDS) conducted a multicenter study on HLA and autoimmunity in Japanese patients with early-onset insulin-dependent diabetes mellitus (IDDM). HLA, immunoglobulin heavy-chain complex (Gm), properdin factor B (BF), and glyoxalase of erythrocytes (GLO) were typed, and organ-specific autoantibodies including islet cell antibodies (ICA) were assayed in 159 IDDM patients and their relatives and in 258 healthy Japanese subjects. The HLA-DRw9 phenotype and HLA-Bw61/DRw9 haplotype were significantly increased among the patients with autoantibodies other than ICA, whereas the DR4 phenotype and Bw54/DR4 haplotype were significantly increased in those without the autoantibodies. The DR4 phenotype was significantly increased in the patients with autoimmune thyroid diseases. The relative risk of the HLA-DRw9/DR4 genotype was highest among all DR genotypes. The Gm phenotype of g and gft were significantly increased in the patients with the autoantibodies. The BF-F phenotype was significantly decreased in the patients either with or without the autoantibodies. There was no association of GLO types with IDDM. The prevalence of ICA among IDDM patients was decreased with duration of IDDM. No significant association was found between the prevalence of ICA and sex, age at onset, or HLA type. On the other hand, the prevalence of the autoantibodies was not significantly changed with duration of the disease, and was significantly higher in females than in males.
Diabetes Res Clin Pract 1994 Oct
PMID:A multicenter study on HLA and autoimmunity in Japanese patients with early-onset insulin-dependent diabetes mellitus (IDDM): the JDS Study. 785 38

Inclusion body myositis (IBM) is defined clinically by a characteristic pattern of progressive proximal and distal limb muscle weakness and resistance to steroid therapy, and histologically by the presence of distinctive rimmed vacuoles and filamentous inclusions as well as a mononuclear infiltrate in which CD8+ T cells are predominant. Muscle damage is believed to be mediated by autoimmune mechanisms, but very little information is available on the immunogenic features of IBM. MHC class I and DR antigens were typed on 13 caucasoid patients with IBM using standard serological techniques or by allele-specific oligonucleotide typing. Complement components C4 and properdin factor B (Bf) were typed by immunofixation after electrophoresis. Restriction fragment length polymorphisms (RFLP) in the class III region were analysed using cDNA probes for C4 and 21-hydroxylase (CYP21) after Taq 1 digestion. IBM was associated with DR3 (92%), DR52 (100%) and HLA B8 (75%). The phenotype data were examined for likely haplotypes by considering together the alleles at the class I, DR and complement loci along with the C4 and CYP21 RFLP. Ten of the DR3+ subjects had a 6.4-kb C4-hybridizing fragment characteristic of a deletion of C4A and CYP21-A. These patients probably carried all, or at least the class II and III regions, of the extended haplotype marked by B8/C4A*Q0/C4B1/BfS/DR3/DR52, which has been associated with several autoimmune diseases and is present in 11% of the healthy caucasoid population. Of the remaining subjects, two had evidence of the extended haplotype marked by B18/C4A3/C4BW*0/BfF1/DR3, which is present in less than 5% of the healthy population and has been associated with insulin-dependent diabetes mellitus. These data provide support for an autoimmune etiology for, and genetic predisposition to, IBM.
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PMID:HLA associations with inclusion body myositis. 792 82

Decay accelerating factor (DAF or CD55) is a cell associated C3 and C5 convertase regulator originally described in terms of protection of self-cells from systemic complement but now known to modulate adaptive T cell responses. It is expressed on all cell types. We investigated whether nonenzymatic glycation could impair its function and potentially be relevant to complications of diabetes mellitus and other conditions that result in nonenzymatic glycation including cancer, Alzheimer's disease, and aging. Immunoblots of affinity-purified DAF from erythrocytes of patients with diabetes showed pentosidine, glyoxal-AGEs, carboxymethyllysine, and argpyrimidine. HPLC/MS analyses of glucose modified DAF localized the sites of AGE modifications to K125 adjacent to K126, K127 at the junction of CCPs2-3 and spatially near R96, and R100, all identified as being critical for DAF's function. Functional analyses of glucose or ribose treated DAF protein showed profound loss of its regulatory activity. The data argue that de-regulated activation of systemic complement and de-regulated activation of T cells and leukocytes could result from non-enzymatic glycation of DAF.
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PMID:DAF in diabetic patients is subject to glycation/inactivation at its active site residues. 2888 71


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