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)

The serum of a stiff-man syndrome patient was declared international GAD reference standard at the "1st GAD Antibody Workshop" held at the "12th International Immunology and Diabetes Workshop" in Orlando, Florida, USA 1993. A comparative study was performed with 123 diabetic and non-diabetic patients to evaluate whether standardization of this reference serum had changed the properties of a commercially available ELISA assay. All samples classified positive with the old test were confirmed with the new assay. Four additional samples with high "normal" values became positive with the new test. One of them was a control person having a family history of diabetes and genetic loci DR4/DR11. These findings might implicate a higher risk for the development of IDDM. The new standardization and adaptation of the ELISA seems to have influenced the sensitivity of the test positively.
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PMID:Determination of anti GAD65 autoantibodies with an ELISA before and after standardization with the new international reference serum. 755 76

MHC class II genes play an important role in the autoimmune destruction of the pancreatic b-cell occurring in IDDM. The genetic pattern of the disease was investigated in Mexican Mestizos. The serological findings of HLA antigens showed a significant association of DR3, DR4, DQ2 and DQ8 and a protective effect of DR11, DR15, DQ5, DQ6 and DQ7. With these results, DNA analysis of HLA-DRB1, B3, B4, DQA1, DQB1, DPA1, DPB1 genes was performed using PCR with allele specific oligotyping. Among the patients, 92.78 carry DQA1 alleles that have ARG in position 52 of DQa chain, and 78.2% are ASP- in DQ5-57. The RR for homozygotes is 32.8 and 5.6, respectively. The main haplotype involved is DRB1*0405, DQA1*0301, DQB1*0302. Thus, DQa and DQb form a relevant recognition site for the "diabetogenic peptidett which induces the autoimmune destruction. Positions 57 and 74 of DRB1 locus contribute highly to the expression and severity of IDDM in Mestizos and other ethnic groups, but not in Caucasians or Blacks.
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PMID:[MHC-dependent molecular mechanisms of susceptibility and protection in type I diabetes in Mexicans]. 894 98

HLA classes I and II profiles were determined among 45 unrelated Lebanese Greek Orthodox by the complement dependent lymphomicrocytotoxicity assay. HLA epitope frequencies and alleles in linkage disequilibrium were determined; the obtained results were then compared to those reported for other groups. Moreover, possible HLA-disease associations were examined; medical history in relation to diabetes, rheumatoid arthritis, and ankylosing spondilitis was taken for each of the 45 individuals. The results indicated that: 1) There were similarities and differences in HLA frequencies and alleles in linkage disequilibrium in Greek Orthodox as compared to those in other groups. It is worth mentioning the higher frequencies of B35, DR11, and DQ3 and the existence of linkage disequilibrium between DR11 and DR52 and DR4 and DR53 in Greek Orthodox. 2) Preliminary results indicate that there were no significant HLA-disease associations between each of DR4 and rheumatoid arthritis, DR4 and insulin dependent diabetes mellitus (IDDM), and B27 and ankylosing spondilitis in the group studied. Such associations have been reported in North American Caucasians.
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PMID:Human leukocyte antigen frequencies in a selected group of Lebanese Greek Orthodox. 979 25

To further clarify the association of HLA DR alleles with type 1 diabetes mellitus and the influence of age-onset and gender on type 1 diabetes, we investigated HLA-DR in 76 child onset Chinese (36 males) type 1 diabetes patients and 154 normal controls by using PCR-SSP (sequence specific primer). The mean age of onset of diabetes patients was 8.43 +/- 3.96 year-old. Our results revealed that the frequencies of DR3, DR4 and DR9 in diabetes patients were significantly higher than those in control group (all P < 0.01). The susceptible alleles were DR3, DR4, DR9, with relative risks of 8.25, 2.57 and 2.67, respectively. The protective alleles to type 1 diabetes were DR 2, DR8, DR11 and DR12 with relative risk of 0.24, 0.15, 0.16 and 0.39, respectively. There were no significant differences between the frequencies of HLA DR 3, DR4, DR9, DR3/4, DR3/9 and DR4/9 in male and female diabetic children. We divided the diabetes patients into three groups according to their age of onset (1-5 years old, 6-10 years old and 11-17 years old). There was a trend that the frequencies of DR9 decreased with the increase of age at onset, but there was no significant difference of DR3, DR4, DR9, DR3/4, DR3/9 and DR4/9 frequencies between diabetes children with age onset 0-10 years and 11-17 years. As to the influence of gender on the HLA genotypes, the frequency of DR3/4 decreased with the increase of age at onset for male patients and the frequency of DR3/4 increased with the increase of age at onset for female patients.
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PMID:The influence of age and gender on HLA-DR in Chinese child-onset type 1 diabetes mellitus patients. 1122 43

Polyglandular autoimmune syndromes (PAS) are rare polyendocrinopathies characterized by the failure of several endocrine glands as well as nonendocrine organs, caused by an immune-mediated destruction of endocrine tissues. This article summarizes extensive clinical, epidemiological, serological, and genetic data of a large collective of patients with PAS (n = 360). Since 1988, more than 15,000 adult patients with endocrine diseases have been screened at the endocrine center of the Mainz University, and 151 of 360 patients with PAS have regularly been followed. Type 1 diabetes, Graves' disease, Hashimoto thyroiditis, Addison's disease, vitiligo, alopecia, hypogonadism, and pernicious anemia were observed in 61%, 33%, 33%, 19%, 20%, 6%, 5%, and 5%, respectively. The most common disease combination was type 1 diabetes and autoimmune thyroid disease. In most patients, type 1 diabetes was the first manifestation of PAS (48%). The longest time intervals between manifestations of the first and second immune endocrinopathies occurred between type 1 diabetes and thyroid disease (13.3 +/- 11.8 yr) and between vitiligo and thyroid disease (16.3 +/- 13.3 yr), but a shorter time interval was observed between Addison's and thyroid diseases. Of the 471 patients with type 1 diabetes screened, 83 (17.6%) were positive for PAS. Subsequently, sera of 126 patients with PAS, 287 with type 1 diabetes, and 303 matched controls were compared for human leukocyte antigens. Patients with PAS had significantly higher frequencies of the human leukocyte antigens A24, A31, B8, B51, B62, DR3, and DR4 (relative risk, 2.35, 2.74, 2.47, 7.17, 2.22, 1.94, and 2.46) vs. controls, and for A31, B15, B52, B55, DR2, DR11, and DR13 (relative risk, 2.51, 7.96, 3.99, 5.36, 4.46, 2.89, and 3.26) vs. type 1 diabetes patients without PAS. In conclusion, patients with autoimmune endocrine disease should be followed on a regular basis. In subjects at risk for PAS, functional screening every 3 yr is warranted. If clinical disease is present, serological measurement of organ-specific antibodies should follow.
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PMID:Polyglandular autoimmune syndromes: immunogenetics and long-term follow-up. 1284 30

The lowest incidence of childhood type 1 diabetes in Europe has been reported from the Republic of Macedonia. To assess the possible genetic contribution we analyzed the distribution of HLA-DR-DQ haplotypes among 163 diabetic children and 239 healthy controls. Similar disease associations were found as in other Caucasian populations. HLA-(DR3)-DQA1*05-DQB1*02 was the most common disease associated haplotype, but several DRB1*04-DQB1*0302 haplotypes were also found increased among patients. DRB1*0402 was the most common DR4 allele among them. The high frequency of protective (DR11/12)-DQA1*05-DQB1*0301 and (DR14)-DQB1*0503 haplotypes as well as of neutral (DR1/10)-DQB1*0501 and (DR16)-DQB1*0502 haplotypes were characteristic for the background population. Although a relatively low frequency of predisposing and a high frequency of protective haplotypes was detected, the haplotype frequency distribution did not markedly differ from that reported from other Eastern Mediterranean populations and these differences cannot be the sole explanation for the low disease incidence in Macedonia.
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PMID:HLA-DR-DQ haplotypes and type 1 diabetes in Macedonia. 1933 95