The Y Chromosome: A Complex Locus for Genetic Analyses of Complex Human Traits.
Genes 2020 ; 11: .
DOI : 10.3390/genes11111273
PubMed ID : 33137877
PMCID : PMC7693691
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.