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Recent studies have reported that regions of homozygosity (ROH) in the genome are detectable in outbred populations and can be associated with an increased risk of malignancy. To examine whether homozygosity is associated with an increased risk of developing childhood B-cell precursor acute lymphoblastic leukemia (BCP-ALL), we analyzed 824 ALL cases and 2398 controls genotyped for 292 200 tagging SNPs. Across the genome, cumulative distribution of ROH was not significantly different between cases and controls. Four common ROH at 10p11.2-10q11.21, 1p31.1, 19p13.2-3, and 20q11.1-23 were, however, associated with ALL risk at P less than .01 (including 1 ROH to which the erythropoietin receptor [EPOR] gene maps, P = .005) but were nonsignificant after adjusting for multiple testing. Our findings make it unlikely that levels of measured homozygosity, caused by autozygosity, uniparental isodisomy, or hemizygosity, play a major role in defining BCP-ALL risk in predominantly outbred populations.

Original publication

DOI

10.1182/blood-2009-09-244483

Type

Journal article

Journal

Blood

Publication Date

03/06/2010

Volume

115

Pages

4472 - 4477

Keywords

Case-Control Studies, Child, Child, Preschool, Chromosome Mapping, European Continental Ancestry Group, Female, Genes, Recessive, Genome-Wide Association Study, Homozygote, Humans, Infant, Male, Polymorphism, Single Nucleotide, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma, Receptors, Erythropoietin, Risk Factors, United Kingdom