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 1 Associations between polymorphisms in DNA repair genes and glioblastoma
Authors McKean-Cowdin-R; Barnholtz-Sloan-J; Inskip-PD; Ruder-AM; Butler-M; Rajaraman-P; Razavi-P; Patoka-J; Wiencke-JK; Bondy-ML; Wrensch-M 
Source Cancer Epidemiol Biomark Prev 2009 Apr; 18(4):1118-1126 
Link http://cebp.aacrjournals.org/cgi/content/abstract/1055-9965.EPI-08-1078v1 
NIOSHTIC No. 20035207 
AbstractA pooled analysis was conducted to examine the association between select variants in DNA repair genes and glioblastoma multiforme, the most common and deadliest form of adult brain tumors. Genetic data for approximately 1,000 glioblastoma multiforme cases and 2,000 controls were combined from four centers in the United States that have conducted case-control studies on adult glioblastoma multiforme, including the National Cancer Institute, the National Institute for Occupational Safety and Health, the University of Texas M. D. Anderson Cancer Center, and the University of California at San Francisco. Twelve DNA repair single-nucleotide polymorphisms were selected for investigation in the pilot collaborative project. The C allele of the PARP1 rs1136410 variant was associated with a 20% reduction in risk for glioblastoma multiforme (odds ratioCT or CC, 0.80; 95% confidence interval, 0.67-0.95). A 44% increase in risk for glioblastoma multiforme was found for individuals homozygous for the G allele of the PRKDC rs7003908 variant (odds ratioGG, 1.44; 95% confidence interval, 1.13-1.84); there was a statistically significant trend (P = 0.009) with increasing number of G alleles. A significant, protective effect was found when three single-nucleotide polymorphisms (ERCC2 rs13181, ERCC1 rs3212986, and GLTSCR1 rs1035938) located near each other on chromosome 19 were modeled as a haplotype. The most common haplotype (AGC) was associated with a 23% reduction in risk (P = 0.03) compared with all other haplotypes combined. Few studies have reported on the associations between variants in DNA repair genes and brain tumors, and few specifically have examined their impact on glioblastoma multiforme. Our results suggest that common variation in DNA repair genes may be associated with risk for glioblastoma multiforme. 
KeywordsGenes; Genetics; DNA-damage; Central-nervous-system-disorders; Brain-disorders; Cancer; Cancer-rates; Epidemiology; Statistical-analysis; Author Keywords: DNA repair; glioblastoma; brain tumor; polymorphisms; pooled 
ContactRoberta McKean-Cowdin, Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California 
CODENCEBPE4 
Publication Date20090401 
Document TypeJournal Article 
Email Addressmckeanco@usc.edu 
Fiscal Year2009 
NTIS Accession No. 
NTIS Price 
Issue of Publication
ISSN1055-9965 
NIOSH DivisionDSHEFS; DART 
Source NameCancer Epidemiology, Biomarkers & Prevention 
StateOH 
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