To evaluate top-ranking genes identified through genome-wide association studies for an association with corticosteroid-related osteonecrosis in children with acute lymphoblastic leukemia (ALL) who received Dana-Farber Cancer Institute treatment protocols. Lead SNPs from these studies, as well as other variants in the same genes, pooled from whole exome sequencing data, were analyzed for an association with osteonecrosis in childhood ALL patients from Quebec cohort. Top-ranking variants were verified in the replication patient group. The analyses of variants in the locus derived from whole exome sequencing data showed an association of several correlated SNPs (rs11553746, rs2290911, rs7595075, rs2306060 and rs79716074). The rs79716074 defines *B haplotype of the gene, which is well known for its functional role. This study confirms implication of the gene in the treatment-related osteonecrosis in childhood ALL and identifies novel, potentially causal variant of this complication.
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| http://dx.doi.org/10.2217/pgs-2019-0087 | DOI Listing |
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