Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
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Target Concepts:
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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).
...
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.
...
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.
...
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.
...
PMID:Identification of four novel HLA-A alleles from an East African population by high-resolution sequence-based typing. 1705 61