Haptoglobin Gene Expression and Anthracycline-Related Cardiomyopathy in Childhood Cancer Survivors: A COG-ALTE03N1 Report

Singh P, Crossman DK, Zhou L, Wang X, Sharafeldin N, Hageman L, Blanco JG, Burridge PW, Armenian SH, Balis FM, Hawkins DS, Keller FG, Hudson MM, Neglia JP, Ritchey AK, Ginsberg JP, Landier W, Bhatia S. Haptoglobin Gene Expression and Anthracycline-Related Cardiomyopathy in Childhood Cancer Survivors: A COG-ALTE03N1 Report. JACC CardioOncol. 2023 Jun;5(3):392-401. doi: 10.1016/j.jaccao.2022.09.009. eCollection 2023 Jun. PubMed PMID: 37397079; PubMed Central PMCID: PMC10308004.

Anthracycline-related cardiomyopathy is a leading cause of premature death in childhood cancer survivors. The high interindividual variability in risk suggests the need to understand the underlying pathogenesis. The authors interrogated differentially expressed genes (DEGs) to identify genetic variants serving regulatory functions or genetic variants not easily identified when using genomewide array platforms. Using leads from DEGs, candidate copy number variants (CNVs) and single-nucleotide variants (SNVs) were genotyped.