Cited by 82Genetic Associations and EpidemiologySex and Gender in HealthcareSexual Differentiation and Disorders

Using the tools of genetic epidemiology to understand sex differences in neuropsychiatric disorders

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Merikangas, Alison K., Almasy, Laura·2020·Genes, Brain and Behavior

Abstract

Many neuropsychiatric disorders exhibit differences in prevalence, age of onset, symptoms or course of illness between males and females. For the most part, the origins of these differences are not well understood. In this article, we provide an overview of sex differences in psychiatric disorders including autism spectrum disorder (ASD), attention deficit/hyperactivity disorder (ADHD), anxiety, depression, alcohol and substance abuse, schizophrenia, eating disorders and risk of suicide. We discuss both genetic and nongenetic mechanisms that have been hypothesized to underlie these differences, including ascertainment bias, environmental stressors, X‐ or Y‐linked risk loci, and differential liability thresholds in males and females. We then review the use of twin, family and genome‐wide association approaches to study potential genetic mechanisms of sex differences and the extent to which these designs have been employed in studies of psychiatric disorders. We describe the utility of genetic epidemiologic study designs, including classical twin and family studies, large‐scale studies of population registries, derived recurrence risks, and molecular genetic analyses of genome‐wide variation that may enhance our understanding sex differences in neuropsychiatric disorders.

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  1. [62]Falconer DS. The inheritance of liability to certain diseases, estimated from the incidence among relatives. Ann Hum Genet. 1965; 29(1): 51.
  2. [63]Merikangas AK, Merikangas KR. In: Schulze TG, McMahon FJ, eds. Contribution of psychiatric epidemiology to our understanding of psychiatric genetics Primer of Psychiatric Genetics (pp. 1‐23). Oxford, UK: Oxford University Press; 2018.

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Authors
Merikangas, A. K., & Almasy, L.
Affiliations
Children's Hospital of Philadelphia (US)
Corresponding author
Merikangas, Alison K.
Venue
Genes, Brain and Behavior
Publisher
Wiley
Published
2020-06-22
Volume
19
Issue
6
Pages
e12660-e12660
ISSN
  • 1601-183X (ISSN-L)
  • 1601-1848
OpenAlex
W3020033934
Cited by
82
References
148
Citations by year
2026: 14 · 2025: 11 · 2024: 20 · 2023: 9 · 2022: 12 · 2021: 12 · 2020: 4
FWCI
1.32
Type
journal article
Language
en
Open access
Locations
  • Genes Brain & Behavior (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
Funders
  • National Institute of General Medical Sciences (GM031575)
  • National Institute of Mental Health (MH061622, MH119690, MH119737, MH120739)
  • National Institute on Alcohol Abuse and Alcoholism (AA008401)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Sex and Gender in Healthcare
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
Keywords
sex differences, neuropsychiatric disorders, psychiatric genetics, autism spectrum disorder, attention deficit hyperactivity disorder, anxiety, depression, substance use disorders, schizophrenia, eating disorders, suicide risk, ascertainment bias, twin studies, family studies, genome-wide association study, recurrence risk, environmental stressors
MeSH terms
Mental Disorders, Female, Humans, Male, Pedigree, Sex Characteristics, Sex Chromosomes, Twin Studies as Topic, Genome-Wide Association Study

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