Insights into the loss of the Y chromosome with age in control individuals and in patients with age-related macular degeneration using genotyping microarray data

International AMD Genomics Consortium (IAMDGC)

Research output: Contribution to journalArticle

2 Citations (Scopus)


The extent of aneuploidy of the sex chromosomes increases with age in human leukocytes. Here, we re-explore the dynamics of normal loss of the Y chromosome (LOY) with age based on microarray data using two exponential models and two different ways to estimate the fraction of LOY. This analysis shows the existence of a significant correlation between the fraction of LOY estimated from molecular cytogenetics and genotyping microarray data. Although the specific estimates of the parameters for the two exponential models are different from those derived from cytogenetics data, the present analysis in an independent dataset of normal individuals confirms that X0 cells have a selective advantage over XY cells. Moreover, patients with age-related macular degeneration display higher fraction of LOY values and seem to have a predisposition to lose their Y chromosome even at young ages compared to control individuals. As there are no data available for the same individuals at different time points, the parameters reported here are average values drawn from population analyses.

Original languageEnglish
Pages (from-to)401-407
Number of pages7
JournalHuman Genetics
Early online date27 May 2019
Publication statusPublished - Mar 2020



  • Aging/genetics
  • Aneuploidy
  • Chromosome Deletion
  • Chromosomes, Human, Y/genetics
  • Genotype
  • Humans
  • Leukocytes/physiology
  • Macular Degeneration/genetics
  • Male
  • RISK
  • MEN

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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