The role of sex in the genomics of human complex traits
Abstract
Nearly all human complex traits and disease phenotypes exhibit some degree of sex differences, including differences in prevalence, age of onset, severity or disease progression. Until recently, the underlying genetic mechanisms of such sex differences have been largely unexplored. Advances in genomic technologies and analytical approaches are now enabling a deeper investigation into the effect of sex on human health traits. In this Review, we discuss recent insights into the genetic models and mechanisms that lead to sex differences in complex traits. This knowledge is critical for developing deeper insight into the fundamental biology of sex differences and disease processes, thus facilitating precision medicine.
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Most genome-wide association studies focus on white male subjects and those that explore sex differences in complex traits are scarce.
“Most of genome-wide association studies (GWAS) focus on white male subjects127 and those that explore sex differences in complex traits are scarce128.”
From Sex and gender differences and biases in artificial intelligence for biomedicine and healthcare (2020) · cites this paper as [128]
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References 212 · Cited by 303
- Authors
- Khramtsova, E. A., Davis, L. K., & Stranger, B. E.
- Affiliations
- University of Chicago (US)
- Vanderbilt University Medical Center (US)
- Corresponding author
- Davis, Lea K.
- Stranger, Barbara E.
- Venue
- Nature Reviews Genetics
- Published
- 2018-12-23
- Volume
- 20
- Issue
- 3
- Pages
- 173-190
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- OpenAlex
- W2906199739
- Cited by
- 303
- References
- 212
- Citations by year
- 2026: 22 · 2025: 38 · 2024: 48 · 2023: 37 · 2022: 31 · 2021: 63 · 2020: 47 · 2019: 16 · 2018: 1
- FWCI
- 4.41
- Type
- journal article
- Language
- en
- Update notices
- correction (2019-06-28)
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Reviews Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Sex and Gender in Healthcare
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- sex differences, complex traits, sex chromosomes, sex hormones, precision medicine, gender and health, disease susceptibility
- MeSH terms
- Female, Humans, Male, Models, Genetic, Sex Characteristics, Genome, Human, Multifactorial Inheritance, Precision Medicine
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