Abstract
Many psychiatric traits are sexually dimorphic in terms of prevalence, age of onset, progression and prognosis; sex chromosomes could play a role in these differences. In this study we evaluated the association between Y chromosome and mitochondrial DNA haplogroups with sexually-dimorphic behavioural and psychiatric traits. The study sample included 4,211 males and 4,009 females with mitochondrial DNA haplogroups and 4,788 males with Y chromosome haplogroups who are part of the Avon Longitudinal Study of Parents and Children (ALSPAC) based in the United Kingdom. Different subsets of these populations were assessed using measures of behavioural and psychiatric traits with logistic regression being used to measure the association between haplogroups and the traits. The majority of behavioural traits in our cohort differed between males and females; however Y chromosome and mitochondrial DNA haplogroups were not associated with any of the variables. These findings suggest that if there is common variation on the Y chromosome and mitochondrial DNA associated with behavioural and psychiatric trait variation, it has a small effect.
Highlights
Despite its potential involvement in sexually dimorphic disorders and traits, the Y chromosome, which is the sex-determining chromosome in humans, is largely excluded from genetic studies even of sexually dimorphic disease
We derived Y chromosome and mitochondrial DNA haplogroups in children from the Avon Longitudinal Study of Parents and Children (ALSPAC) and tested whether haplogroups are associated with parent-reported behavioural traits
Y chromosome and mitochondrial DNA haplogroups were derived from children in the general population
Summary
Despite its potential involvement in sexually dimorphic disorders and traits, the Y chromosome, which is the sex-determining chromosome in humans, is largely excluded from genetic studies even of sexually dimorphic disease. The implication of lack of recombination is that the Y chromosome cannot be studied as part of a genome-wide association study (GWAS) pipeline. It is analysed using haplogroups which are stable lineages of the Y chromosomes that share a common ancestor. As for the Y chromosome, haplogroups are used to study its association with disease meaning that mitochondrial DNA is often omitted from GWAS17. Y chromosome and mitochondrial DNA haplogroups could influence behavioural traits in children from the general population and so play a role in the observed sexual dimorphism but this has not been previously investigated. Findings could have implications for the role of haplogroups in sexual dimorphism
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