Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011854 (type 1 diabetes)
 20,749 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We have briefly discussed immunogenetic studies of families with hyperglycemia which suggest the existence of at least four types of the disease: a) juvenile, insulin-dependent, ketosis prone diabetes determined by an autosomal recessive gene with 50% penetrance and in linkage with the HLA; b) juvenile, insulin-dependent, ketosis prone diabetes probably determined by an autosomal dominant gene; c) unidentified types of juvenile, insulin-dependent diabetes whose pathogenesis may be related to the HLA associations reported; and d) maturity onset type of hyperglycemia in the young, probably determined by an autosomal dominant gene. There are probably other forms of juvenile hyperglycemia. Some may depend on genes unrelated to the HLA, others may be mostly or totally environmental, rather than genetic.
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PMID:On the genetic heterogeneity of juvenile hyperglycemia. 49

Population studies in Israel have shown that Jews born in Europe or America have the highest prevalence of juvenile diabetes mellitus and Jews born in Asia or Africa, the lowest. The rate in the Israel born, regardless of the father's place of birth, is intermediate between those of the other two groups. The rates for the group from Europe/American and for the Israel-born group increased during the years 1963-68, while that for the Asia/Africa group did not change. It is speculated that the differences in the rates of juvenile diabetes mellitus are related to different frequencies of certain HLA antigens in the different groups or to different associations with susceptibility genes to juvenile diabetes.
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PMID:Juvenile diabetes mellitus. 52 82

HLA-B8 and HLA-Bw15, two antigens associated with juvenile diabetes mellitus in Caucasians of North Europe, have a very low frequency in Sardinian population, who nevertheless have a high frequency of diabetes. The association between diabetes and HLA in Sardinian population has therefore been investigated in 60 patients with diabetes, mellitus (32 with juvenile diabetes and 28 with maturity onset diabetes) and 96 normal, unrelated random controls. No disturbance of HLA distributions was found in maturity onset diabetes, but the frequencies of B8 and Bw35 were increased among juvenile diabetics (18.7 percent and 28.1 percent respectively, compared with 2.0 and 11.4 percent in healthy controls). B18 antigen frequency was also increased, although not significantly, in juvenile diabetes mellitus (65.6 percent compared with 50 percent in controls). In contrast the frequency of HLA-Bw15 in two groups of diabetics differed little from that of controls.
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PMID:HLA antigens in Sardinian patients with diabetes mellitus. 59 67

The distribution of identity by descent (IBD) scores for sib pairs affected with a disease determined by a disease susceptibility (DS) locus tightly linked to the HLA complex is derived. It is shown that the sib pair IBD distribution differs from its a priori distribution and, moreover, is completely specified by three observable population parameters--the additive and dominance variances and the prevalence of the disease in the population. An application of the model is illustrated using data on juvenile diabetes mellitus.
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PMID:The affected sib pair IBD distribution for HLA-linked disease susceptibility genes. 70 75

We determined the prevalence of 24 antigens controlled by the HLA-A and B loci in twenty patients with juvenile diabetes mellitus (JDM), in twenty patients with coeliac disease (CD), and in eight patients with both of these diseases. The prevalence of HLA-B8 was increased in JDM chi2 = 12.52, p = 0.00040) and in CD (chi2 = 26.47, p less than 0.000001) as compared to 900 controls. There was only a modest increase of Bw15 in JDM (chi2 = 8.86, p = 0.0029) and in patients with both diseases (chi2 = 2.72). The observed prevalence of phenotype HLA-B8, Bw15 was enhanced in JDM (chi2 = 16.03, p = 0;000063) and in patients with both JDM and CD (chi2 = 24.48, p = 0.00000074) as compared with controls. In the latter group the observed value was 2.2 fold to that expected. In family studies the children having both B8 and Bw15 were more disposed to develop diabetes than siblings with only one of these antigens. In conclusion, the inherited susceptibility to develop juvenile diabetes is markedly associated with HLA-B8 and slightly with HLA-Bw15, and that of coeliac disease with HLA-B8 in Finnish paediatric patients. The presence of both B8 and Bw15 simultaneously increases the susceptibility to have both JDM and CD.
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PMID:HLA antigens in patients with juvenile diabetes mellitus, coeliac disease and both of the diseases. 87 Mar 55

There is a significant positive association between insulin dependent diabetes, irrespective of age of onset, and the HLA system, whereas there is no association of HLA antigens with non-insulin dependent diabetes. There is a significant concordance value for HLA antigen frequencies in insulin dependent diabetics from three different centres, indicating that the genes (s) conferring susceptibility to this type of diabetes is possibly present in all "juvenile-onset" diabetics and is in linkage disequilibrium with all the B locus alleles.
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PMID:The HLA system and diabetes mellitus. 89 29

Complete HLA and Bf typing of 18 families with juvenile diabetes mellitus (J.D.M.) showed that of 68 children, 9 bore recombinant haplotypes (13%). This frequency is significantly higher than the currently accepted 1.6% for intra-HLA recombinations with a p of 1.3 X 10(6) (binomial expansion) and may be related to the J.D.M. gene itself. Five of the nine crossovers were between HLA-A and B, and four between HLA-B and D. In one informative A/B recombination, Bf segregated with the HLA-B-D segment while in another two, it segregated in cis with HLA-A. This suggests the existence of two genetic sequences within the HLA region, one with Bf on the A site and a second one with Bf on the D site.
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PMID:Intra-HLA recombinations in juvenile diabetes mellitus. 91 52

A close correlation between juvenile mellitus and HLA-B8, HLA-BW15 and HLA-CW3 was found. Association of these antigens with juvenile diabetes mellitus was closely dependent on the ages of onset of the disease. Frequencies of BW15 and CW3 showed a remarkably low incidence in the childhood diabetics (0-15 years old) and were found increased in the patients with later (16 years or older) onset diabetes. HLA-B8 frequencies were found increased in all the groups of diabetics with different ages of onset. These findings point to the importance of HLA-B8 in childhood and HLA-B8, BW15 and CW3 in the later onset juvenile onset diabetes mellitus (JOD).
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PMID:Juvenile diabetes mellitus: HLA-antigen frequencies dependent on the age of onset of the disease. 93 67

Humoral immunity to bacterial antigens was tested in 49 tissue typed patients with juvenile onset diabetes mellitus (JOD) and in 50 healthy controls. The number of patients with agglutinins to E. coli and staphylococci was significantly lower compared to controls (p less than 0.001, p less than 0.01 respectively). Missing antibody formation to pertussis and diphtheria toxoid could also be detected in a higher percentage of JOD patients than of controls (p less than 0.05; p congruent to 0.05, respectively). By contrast heteroagglutinins to sheep and rabbit erythrocytes were found in similar proportion in both groups and the values of immunoglobulin serum concentrations showed no difference between patients and controls. In addition no correlation between antibody formation and genes of the HLA complex was found. It is suggested that the severely reduced agglutinin formation to bacteria antigens might be partly responsible for susceptibility to bacterial infections in juvenile diabetics.
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PMID:Humoral immunodeficiency to bacterial antigens in patients with juvenile onset diabetes mellitus. 95 37

HLA-A and B antigens were determined in 112 patients with insulin-dependent juvenile onset diabetes mellitus, who could be subdivided into "non" and "high responder" to insulin. The data revealed a trend of an association of these diabetes subgroups with only one of the diabetes-associated antigens HLA-B8 and HLA-BW15 and indicated the existence of at least two different genetic constellations for susceptibility to juvenile diabetes mellitus. One form with a strong immune-response to insulin seemed to be associated with HLA-BW 15 and the other form without humoral immunoreactivity to insulin seemed to be associated with the presence of HLA-B8 and the absence of HLA-B7.
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PMID:HLA antigens and immunoresponsiveness to insulin in insulin-dependent diabetes mellitus. 96 73


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