Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8
pubmed:dateCreated
2000-12-7
pubmed:databankReference
pubmed:abstractText
Gliomas include several histologically distinct types of tumors whose molecular profiles suggest different etiologies. Because the ERCC1 protein is essential for nucleotide excision repair and influences genomic instability, polymorphisms in ERCC1 may play a role in human tumors. We determined the presence of the A versus C polymorphism at nucleotide 8092 of ERCC1 using a single-strand conformational polymorphism assay and DNA sequencing in adults with glioma and controls from a population-based study. Among 318 alleles from 159 controls, 27% (86) were A and 73% were C. Prevalences of the CC genotype were 51% (81 of 159), 48% (30 of 62), 63% (20 of 32), and 82% (23 of 28) for controls and subjects with glioblastoma multiforme, astrocytoma, and oligoastrocytoma, respectively (Fisher's exact P = 0.009). The age-adjusted odds ratio for genotype CC in all cases versus controls was 1.4 (95% confidence interval, 0.9-2.3), whereas that for subjects with oligoastrocytoma versus controls was 4.6 (95% confidence interval, 1.6-13.2). The median age at diagnosis was 46 years for glioma patients with the CC genotype compared with 54 years for patients with the AA or AC genotype (P = 0.04). This is the first study to report a significant association of a polymorphism in ERCC1 with the risk of brain tumors. This A/C polymorphism, which may affect mRNA stability for ERCC1, also results in an amino acid substitution of lysine to glutamine in a recently described nucleolar protein (ASE-1) and T-cell receptor complex subunit CD3epsilon-associated signal transducer (CAST). This finding, if confirmed in other series, may provide a foundation on which to study novel mechanisms of carcinogenesis in subsets of glioma.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1055-9965
pubmed:author
pubmed:issnType
Print
pubmed:volume
9
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
843-7
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed-meshheading:10952103-Adult, pubmed-meshheading:10952103-Age of Onset, pubmed-meshheading:10952103-Aged, pubmed-meshheading:10952103-Case-Control Studies, pubmed-meshheading:10952103-Chi-Square Distribution, pubmed-meshheading:10952103-DNA Repair, pubmed-meshheading:10952103-DNA-Binding Proteins, pubmed-meshheading:10952103-Endonucleases, pubmed-meshheading:10952103-Female, pubmed-meshheading:10952103-Gene Frequency, pubmed-meshheading:10952103-Glioma, pubmed-meshheading:10952103-Humans, pubmed-meshheading:10952103-Logistic Models, pubmed-meshheading:10952103-Male, pubmed-meshheading:10952103-Middle Aged, pubmed-meshheading:10952103-Molecular Sequence Data, pubmed-meshheading:10952103-Odds Ratio, pubmed-meshheading:10952103-Polymorphism, Genetic, pubmed-meshheading:10952103-Polymorphism, Single-Stranded Conformational, pubmed-meshheading:10952103-Proteins, pubmed-meshheading:10952103-San Francisco, pubmed-meshheading:10952103-Sequence Analysis, DNA, pubmed-meshheading:10952103-Statistics, Nonparametric
pubmed:year
2000
pubmed:articleTitle
Association of an ERCC1 polymorphism with adult-onset glioma.
pubmed:affiliation
Department of Epidemiology and Biostatistics, School of Medicine, University of California, San Francisco 94143, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, U.S. Gov't, Non-P.H.S., Research Support, Non-U.S. Gov't