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<p>VTRNA2-1 is a polymorphically imprinted locus. The proportion of individuals with a maternally imprinted VTRNA2-1 locus is consistently approximately 75% in populations of European origin, with the remaining circa 25% having a non-methylated VTRNA2-1 locus. Recently, VTRNA2-1 hypermethylation at birth was suggested to be a precursor of paediatric acute lymphoblastic leukaemia with biomarker potential. The results presented by Ghantous et al. [1] allow for an alternative interpretation to what the authors discussed, and we argue that the observed methylation difference at birth is due to an uneven distribution of imprinted and non-methylated individuals among the cases and controls, with all individuals presenting normative physiological VTRNA2-1 methylation levels. In addition, the notable interindividual variation arising from the polymorphic imprinting in VTRNA2-1 methylation levels calls into question the validity of VTRNA2-1 methylation as a biomarker.</p>

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Commentary on “Epigenome-wide analysis across the development span of pediatric acute lymphoblastic leukemia: backtracking to birth”

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年1月11日

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  • Emma Raitoharju,
  • Saara Marttila

摘要

VTRNA2-1 is a polymorphically imprinted locus. The proportion of individuals with a maternally imprinted VTRNA2-1 locus is consistently approximately 75% in populations of European origin, with the remaining circa 25% having a non-methylated VTRNA2-1 locus. Recently, VTRNA2-1 hypermethylation at birth was suggested to be a precursor of paediatric acute lymphoblastic leukaemia with biomarker potential. The results presented by Ghantous et al. [1] allow for an alternative interpretation to what the authors discussed, and we argue that the observed methylation difference at birth is due to an uneven distribution of imprinted and non-methylated individuals among the cases and controls, with all individuals presenting normative physiological VTRNA2-1 methylation levels. In addition, the notable interindividual variation arising from the polymorphic imprinting in VTRNA2-1 methylation levels calls into question the validity of VTRNA2-1 methylation as a biomarker.