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Blood, 1 February 2007, Vol. 109, No. 3, pp. 1233-1236.
Prepublished online as a Blood First Edition Paper on October 5, 2006; DOI 10.1182/blood-2006-07-037853.


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Submitted July 26, 2006
Accepted September 17, 2006

A common genetic variant in XPD associates with risk of 5q and 7q deleted acute myeloid leukemia

Alexandra G Smith, Lisa J Worrillow, and James M Allan*

Epidemiology and Genetics Unit, Department of Health Sciences, University of York, Heslington, UK
Epidemiology and Genetics Unit, Department of Biology, University of York, Heslington, UK

* Corresponding author; email: jim.allan{at}egu.york.ac.uk.

Numerous structural genetic abnormalities observed in acute myeloid leukemia (AML) illustrate the heterogeneity of this disease, which has likely contributed to the difficulty in identifying susceptibility alleles for AML. We previously reported that carriers of the glutamine-encoding allele at codon 751 of the xeroderma pigmentosum group D (XPD) DNA repair gene were significantly more likely to have a karyotype associated with a less favourable prognosis, and hypothesized that this observation was driven by an association between the codon 751 variant and risk of developing AML with specific structural abnormalities. Using a case series of 927 AML patients we show here that the XPD codon 751 glutamine-encoding variant significantly associates with risk of developing AML with a chromosome 5q deletion (odds ratio (OR) 2.09, 95% confidence interval (CI) 1.14-3.81, n=69, p=0.02) or a chromosome 7q deletion (OR 2.27, 95% CI 1.09-4.71, n=47, p=0.03), but not with any other commonly recurring cytogenetic lesion.


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M. Voso, E Fabiani, F D'Alo', F Guidi, A Di Ruscio, S Sica, L Pagano, M Greco, S Hohaus, and G Leone
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Ann. Onc., September 1, 2007; 18(9): 1523 - 1528.
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