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Review
. 2020 Oct 29;11(11):1273.
doi: 10.3390/genes11111273.

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

Katherine Parker  1 , A Mesut Erzurumluoglu  2 , Santiago Rodriguez  1   3
Affiliations
Review

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

Katherine Parker et al. Genes (Basel). .

Abstract

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.

Keywords: Y chromosome; Y haplogroups; complex human traits; complex locus; genetic association analyses; genetic epidemiology.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
GWASs can be used to look for genetic associations with human disease traits across the human genome. This figure is a modified version of the GWAS diagram from the September 2019 version of the GWAS Catalog, a directory which contains more than 157,000 associations from 4220 publications [2]. The diagram shows hits identified on chromosomes 22 and X, with different categories of disease indicated by different coloured markers. There are no hits which correspond to ChrY. Legend has not been included for clarity, but the original diagram and legend can be found at https://www.ebi.ac.uk/gwas/diagram.
Figure 2
Figure 2
Schematic representation of the Y and X chromosomes. Pseudoautosomal regions 1 and 2, the MSY and the location of SRY are indicated.
Figure 3
Figure 3
Haplogroups are groups of haplotypes that share a common ancestor. Individuals belonging to a specific haplogroup share the same derived allele for one informative SNP. A derived allele is a new variant in a locus, different from the original non-mutated allele (which is known as the ancestral allele). This figure shows three haplotypes. All of them share the derived allele for SNP1. Variation in other SNPs (in red) creates different haplotypes within this haplogroup.
Figure 4
Figure 4
Protein-coding Y-chromosomal genes expressed in non-gonadal tissues (not comprehensive) as detected by the Human Protein Atlas. Protein labelled 1: DDX3Y; 2: EIF1AY; 3: NLGN4Y; 4: RPS4Y1; 5: UTY; 6: ZFY. Proteins highlighted in red have a low quality of supporting evidence. Image source: commons.wikimedia.org/wiki/Human_body_diagrams (Wikimedia CC0 licence).
See this image and copyright information in PMC

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