Journal Article

Comprehensive analysis of the role of DNA repair gene polymorphisms on risk of glioma

Lara Bethke, Emily Webb, Anne Murray, Minouk Schoemaker, Christoffer Johansen, Helle Collatz Christensen, Kenneth Muir, Patricia McKinney, Sarah Hepworth, Polyxeni Dimitropoulou, Artitaya Lophatananon, Maria Feychting, Stefan Lönn, Anders Ahlbom, Beatrice Malmer, Roger Henriksson, Anssi Auvinen, Anne Kiuru, Tiina Salminen, Anthony Swerdlow and Richard Houlston

in Human Molecular Genetics

Volume 17, issue 6, pages 800-805
Published in print March 2008 | ISSN: 0964-6906
Published online November 2007 | e-ISSN: 1460-2083 | DOI:
Comprehensive analysis of the role of DNA repair gene polymorphisms on risk of glioma

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Much of the variation in inherited risk of glioma is likely to be explained by combinations of common low risk variants. The established relationship between glioma risk and exposure to ionizing radiation led us to examine whether variants in the DNA repair genes contribute to disease susceptibility. We evaluated 1127 haplotype-tagging single-nucleotide polymorphisms (SNPs) supplemented with 388 putative functional SNPs to capture most of the common variation in 136 DNA repair genes, in five unique case–control series from four different countries (1013 cases, 1016 controls). We identified 16 SNPs associated with glioma risk at the 1% significance level. The highest association observed across the five independent case–control datasets involved rs243356, which maps to intron 3 of CHAF1A (trend odds ratio, 1.32; 95% confidence interval 1.14–1.54; P = 0.0002; false-positive report probability = 0.055, based on a prior probability of 0.01). Our results provide additional support for the hypothesis that low penetrance variants contribute to the risk of developing glioma and suggest that a genetic variant located in or around the CHAF1A gene contributes to disease risk.

Journal Article.  4241 words.  Illustrated.

Subjects: Genetics and Genomics

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