Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039483 (giant cell arteritis)
3,204 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

HLA-DR antigen distribution was determined by lymphotoxicity on total lymphocytes for locus A.B.C. antigens numbering 14,28 and 7 respectively, and by a search on B lymphocytes for the 12 antigens of locus DR. The normal population included 124 subjects typed for HLA-A.B.C. and 200 subjects typed for HLA-DR. The frequency of alleles was compared to that of the different groups of patients. Significant variations were evaluated by the X2 test, using Woolf's method; the P value obtained was multiplied by the number of antigens looked for (P corrected, or pc). No deviation in frequency was found with the HLA-A.B.C. antigens. Only the DR 4 antigen, present in 23% of the normal population, was increased in proportions that depended on clinical classification: 39.4% (Pc = 0.05) in all patients with giant cell arteritis: 27% (NS) in the 37 polymyalgia rheumatica patients with negative biopsy of the temporal artery; 46.8% (P 0.05) in the 62 patients with Horton's disease presenting either as clinical and histological temporal arteritis (26 cases; DR 4 = 38.5%; NS), or as clinical and/or histological temporal arteritis associated with polymyalgia rheumatica (36 cases; DR 4 = 52.8%; Pc less than 0.005). The frequency of DR 4 antigen in Horton's disease with typical temporal artery biopsy (37 cases) was 46% (Pc = 0.05).
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PMID:[Distribution of HLA-DR antigens in unrelated giant cell arteritis]. 296 84

Fifty-five Caucasoid patients with polymyalgia rheumatica (PMR) or giant cell arteritis (GCA) were immunoglobulin (Gm) allotyped for this study. Forty-four of these patients had been previously HLA-A,B,C and DR locus allotyped. The incidence of the immunoglobulin allotypic marker Glm(2) was significantly increased in the GCA group (50.00% v. controls 18.75%, P equal less than 0.01). There was a similar but insignificant rise of this Gm marker in the PMR group (27.24% v. 18.75%, NS). The increase in Glm(2) in the GCA group was not accompanied by a corresponding rise in the number of people homozygous for Glm(2), i.e., all the increase could be attributed to patients with the Glm(1,2,3,):G3m(5,10,21)phenotype.
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PMID:Immunoglobulin (Gm) allotype frequencies in patients with giant bell arteritis and polymyalgia rheumatica. 664 68

Non-expressed HLA alleles become a potential problem in the transition of the HLA typing methodology from serologic typing to more accurate DNA typing. In this study, a novel nonexpressed A*24 allele identified from two members of a Korean family was characterized. At the DNA sequence level, the nonexpressed allele (A*24023) is apparently normal; the complete genomic sequence was identical to HLA-A*2402101, from the 5'-upstream region to the 3'-downstream region, except for a single silent substitution at codon 211 (GCG-->GCA) in exon 4. A DNA methylation analysis using methylation-sensitive restriction enzymes, however, showed that the nonexpressed A*24023 allele from an apparently normal individual was highly methylated in regions covering exons and introns as well as the 5'-upstream region. This result suggests that hypermethylation of the HLA-A gene may induce gene inactivation in the normal individuals.
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PMID:Expression defect of an HLA-A*24 allele associated with DNA methylation in a normal individual. 1275 72

We report here four novel human leukocyte antigen (HLA)-A alleles identified among an East African population during sequence-based HLA-A typing. The novel alleles were confirmed by sequencing two separate polymerase chain reaction products and by molecular cloning and sequencing multiple clones. The new allele A*9202 is identical to A*0202 at exon 2 and exon 3 except for a single nucleotide difference at codon 43 (CGG-->CAG), resulting in a coding change from Arginine to Glutamine. The second new allele has a synonymous change at codon 139 (GCA-->GCG), that differentiates it from A*680101. The new allele has been named by the World Health Organization nomenclature committee as A*680105. The novel allele A*2630 is identical to A*2603 at exon 2 and exon 3 except for a nonsynonymous change at codon 90 (GAC-->GCC), changed from Aspartic acid to Alanine. The fourth new allele is identical to A*290201 except for a single nucleotide difference at codon 138 (ATG-->GTG), resulting in a coding change from Methionine to Valine. The new allele has been named by the World Health Organization nomenclature committee as A*2915. Identification of these novel HLA-A alleles reflects the genetic diversity of this East African population.
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PMID:Identification of four novel HLA-A alleles from an East African population by high-resolution sequence-based typing. 1705 61