title: Polymorphisms in the nucleotide excision repair gene ERCC2/XPD and risk of non-Hodgkin lymphoma.
abstract: Non-Hodgkin lymphoma (NHL) represents a complex group of B- and T-cell malignancies characterised by chromosomal translocations. Since defects in DNA repair result in an increased frequency of chromosomal aberrations it has been hypothesised that genetic variation in DNA repair may be associated with risk of NHL. To investigate the relationship between DNA repair and NHL we analysed polymorphisms in XPD (R156R, D312N, K751Q) using DNA collected in a UK population-based case-control study of lymphoma. We observed no association between genetic variation in XPD and risk of NHL. However, the XPD 751 Gln allele was associated with a two-fold decreased risk of diffuse large B-cell lymphoma (OR 0.56, 95% CI 0.34-0.92, p=0.02), the major subtype of NHL. Overall, our study identifies that XPD polymorphisms may be important in the aetiology of NHL although analysis of additional polymorphisms and extended haplotype studies are required to clarify their role.
authors.affiliation: Department of Biology, University of York, York, YO10 5YW, United Kingdom.
authors.forename: Lisa
authors.initials: L
authors.lastname: Worrillow
authors.forename: Eve
authors.initials: E
authors.lastname: Roman
authors.forename: Peter J
authors.initials: PJ
authors.lastname: Adamson
authors.forename: Eleanor
authors.initials: E
authors.lastname: Kane
authors.forename: James M
authors.initials: JM
authors.lastname: Allan
authors.forename: Tracy J
authors.initials: TJ
authors.lastname: Lightfoot
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D004260:DNA Repair; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D016403:Lymphoma, Large B-Cell, Diffuse / Q000235:genetics*; D008228:Lymphoma, Non-Hodgkin / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D012306:Risk; D006113:United Kingdom / Q000453:epidemiology; D051759:Xeroderma Pigmentosum Group D Protein / Q000235:genetics*
chemical_list: D051759:Xeroderma Pigmentosum Group D Protein; C497292:ERCC2 protein, human