The Y Chromosome: A Complex Locus for Genetic Analyses of Complex Human Traits

Katherine Parker, A. Mesut Erzurumluoglu, Santiago Rodriguez*

*Corresponding author for this work

Research output: Contribution to journalReview article (Academic Journal)peer-review

1 Citation (Scopus)
27 Downloads (Pure)


The Human Y chromosome (ChrY) has been demonstrated to be a powerful tool for phylogenetics, population genetics, genetic genealogy and forensics. However, the importance of ChrY genetic variation in relation to human complex traits is less clear. In this review, we summarise existing evidence about the inherent complexities of ChrY variation and their use in association studies of human complex traits. We present and discuss the specific particularities of ChrY genetic variation, including Y chromosomal haplogroups, that need to be considered in the design and interpretation of genetic epidemiological studies involving ChrY
Original languageEnglish
Article number1273
Number of pages19
Issue number11
Publication statusPublished - 29 Oct 2020


  • Y chromosome
  • Y haplogroups
  • complex locus
  • genetic association analyses
  • genetic epidemiology
  • complex human traits


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