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

One hundred and thirty-six Finnish patients with insulin-dependent (type I) diabetes mellitus were investigated for the HLA-A, B, D and DR antigens as well as the Bf and C4 allotypes. The statistically significant increase in the frequencies of HLA-A9, B8, B15, Dw3, Dw4, DR3, DR4, C4A0 and C4B3 was observed when compared with the healthy controls. About 79% of the patients had HLA-DR4, and 53% had HLA-DR3 antigens. A rare C4 allele C4B3 was found in 21% of the patients, whereas only in 2% among the controls (relative risk 16.35). The etiological fraction (EF) values indicated that HLA D/DR alleles were the best markers for IDDM, the observed EF for HLA-DR4 in diabetes was as high as 0.70. Examination of HLA, Bf and C4 phenotypes suggested that at least two supratypes "B15 BfS C4A3B3 D(R)4" and "B8 BfS C4A0B1 D(R)3" were markers for the susceptibility to type I diabetes, one third of our patients had either of these supratypes. The protective role of DR2 and Dw2 antigens was also confirmed: no HLA-Dw2 positive patients and only one with HLA-DR2 was found.
 ...
PMID:HLA antigens and complotypes in insulin-dependent diabetes mellitus. 346 Feb 20

We have studied the relative frequency of Dw specificities (defined with homozygous typing cells or primed LD (lymphocyte defined) typing reagents) associated with DR4 and DR2 in the normal and insulin-dependent diabetic population. Our findings demonstrate that there is a highly significantly increased frequency of Dw4 in DR4 positive diabetics as compared with normals and a significantly decreased frequency of Dw2 and Dw12 in the few DR2 positive insulin-dependent diabetics that we have found. In addition, we have used PLT reagents to define a new LD specificity, LD-MN2, that is associated with DR2 and is found significantly more frequently in DR2+ IDD patients than in DR2+ normals. These results suggest that determinants of import in the association between HLA-D and IDD may be more closely related to Dw than to DR.
 ...
PMID:Insulin-dependent diabetes--associated HLA-D region encoded determinants. 387 32

The typing of 22 HLA-A and B antigens in members of 13 families with one child having juvenile diabetes mellitus showed a statistically significant higher frequency of HLA-B8 antigen in sick children (51.54%) as well as high parental heredity rate of this antigen, as compared to 301 normal subjects and 51 normal children of families free from diabetes mellitus. The agreement of 85.71% in one or two haplotypes in diabetic and healthy siblings in 7 families involved antigens other than B8. The results of these family studies confirm the existing relationship between HLA-B8 and juvenile diabetes mellitus as demonstrated by repeated screenings of the patients populations. The relationship of HLA antigens to insulin-dependent juvenile diabetes mellitus has been studied by many authors. The issues of their studies on patient populations revealed HLA-DR3, Dw3, DR4, Dw4, B8, B18, B15, B40, Cw3 and secondarily A1 and A2 to occur with significantly higher frequency. On the other hand, antigens DR2, Dw2, B7 (secondarily A3 and A11) are statistically less frequent in this disease, and their presence therefore means a certain protection against the risk of diabetes (4, 6, 7, 11, 15, 21). Individual authors' family studies differ in conclusions as to the occurrence of some of the above HLA antigens, and the degree of HLA identity of two siblings, one with diabetes, the other one normal (6, 8, 12, 17). For this reason we decided to start investigations on the occurrence of HLA A and B antigens in family members with one child having juvenile diabetes mellitus.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:HLA and insulin-dependent juvenile diabetes mellitus. 641 92

Sixty-six idiopathic hemochromatotic French patients were HLA-A, B typed. The previously known strong association with A3 was confirmed (RR = 10.6, P less 10(-9)) and our results indicate clearly that a gene implicated in idiopathic hemochromatosis (IH) determinism is located in the HLA-A region. The linkage disequilibrium between A3 and B7 was found to be far greater in IH patients than in controls. The authors have therefore hypothesized that this might be due to a selective advantage of this haplotype in IH. The A3, B7, Dw2 HLA haplotype has been shown to exert a protective effect against common insulin dependent diabetes (IDD). Thus the patients were divided into two groups according to the presence or absence of a definite IDD. B7 was found more frequently in IH patients without IDD but the difference is not significant. In this context, the strong linkage disequilibrium between A3 and B7 might be due to the protective effect of the B region of this haplotype against IH secondary IDD.
 ...
PMID:HLA-A3, B7 linkage disequilibrium in hemochromatotic patients with or without insulin dependent diabetes. 733 14