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 HLA-DQA1 allele and nucleotide sequence of HLA-DQA1 promoter region (QAP) in a patient with IDDM complicated lung cancer have been identified by PCR/SSCP, PCR/SSCP and PCR/sequencing. The results showed that: (1) All of the lung cancer patient and his family members carried HLA-DQA1* 0301/0501 alleles. (2) a single base substitution G-->A at position -155 and deletion CAA at position -161 to -163 occurred in the patient. These results suggest that the mutation of HLA-DQA1 promoter region may modulate HLA-DQA1 gene expression by trans-acting factors binding to variant cis-acting elements and may be responsible for pathogenesis of lung cancer.
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PMID:[Nucleotide sequence of HLA-DQA1 promoter region (QAP) in a lung cancer patient]. 938 87

Type I diabetes is a complex disease in which multiple susceptibility loci have been implicated by whole genome scans. IDDM8, a susceptibility locus, is located on chromosome 6q27, however the specific susceptibility gene has yet to be identified. We have examined five potential candidate genes using 36 genetic markers, spanning 360kb located near the chromosome 6q27 terminus in 478 families for diabetes association. No associations with type I diabetes susceptibility were detected with the strength previously observed for IDDM1 or IDDM2. However, a novel CAG/CAA polymorphism was detected in exon 3 of the TATA box-binding protein gene, which shows preliminary evidence of association with diabetes susceptibility (p<0.05).
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PMID:Association of a CAG/CAA repeat sequence in the TBP gene with type I diabetes. 1538 Oct 80

Recently, the high prevalence of autoantibodies against antigens expressed in exocrine pancreatic cells such as carbonic anhydrase II (ACA) and lactoferrin (ALF) was found in sera from adult Japanese patients with type 1 diabetes. Hence, we determined by ELISA the presence of ACA and ALF both in children (n = 27) and adult (n = 15) Caucasian patients with type 1 diabetes at diagnosis. Among children, ACA were found in one patient (3.7%) and ALF in three (11.1%). Among adults, CAA and ALF were detected in three patients (20%) and in one patient (6.7%), respectively. The prevalence of ACA and ALF observed in our Caucasian patients with type 1 diabetes at diagnosis did not reach the high value previously reported in adult Japanese patients.
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PMID:Prevalence of autoantibodies to carbonic anhydrase II and lactoferrin in patients with type 1 diabetes. 1569 6

Susceptibility to the autoimmune disease type 1 diabetes has been linked to human chromosome 6q27 and, moreover, recently associated with one of the genes in the region, TATA box-binding protein (TBP). Using a much larger sample of T1D families than those studied by others, and by extensive re-sequencing of nine other genes in the proximity, in which we identified 279 polymorphisms, 83 of which were genotyped in up to 725 T1D multiplex and simplex families, we obtained no evidence for association of the TBP CAG/CAA (glutamine) microsatellite repeat sequence with disease, or for nine other genes, PDCD2, PSMB1, KIAA1838, DLL1, dJ894D12.4, FLJ25454, FLJ13162, FLJ11152, PHF10 and CCR6. This study also provides an exon-based tag single nucleotide polymorphism map for these 10 genes that can be used for analysis of other diseases.
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PMID:No evidence for association of the TATA-box binding protein glutamine repeat sequence or the flanking chromosome 6q27 region with type 1 diabetes. 1585 Jul 78