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Cited by 787Sex and Gender in HealthcareGenetic Associations and EpidemiologyGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Sex-specific genetic architecture of human disease

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Ober, Carole, Loisel, Dagan A., Gilad, Yoav·2008·Nature Reviews Genetics
DOI 10.1038/nrg2415PMC PMC2694620
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Abstract

Sexual dimorphism in anatomical, physiological and behavioural traits are characteristics of many vertebrate species. In humans, sexual dimorphism is also observed in the prevalence, course and severity of many common diseases, including cardiovascular diseases, autoimmune diseases and asthma. Although sex differences in the endocrine and immune systems probably contribute to these observations, recent studies suggest that sex-specific genetic architecture also influences human phenotypes, including reproductive, physiological and disease traits. It is likely that an underlying mechanism is differential gene regulation in males and females, particularly in sex steroid-responsive genes. Genetic studies that ignore sex-specific effects in their design and interpretation could fail to identify a significant proportion of the genes that contribute to risk for complex diseases.

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Authors
Ober, C., Loisel, D. A., & Gilad, Y.
Affiliations
University of Chicago (US)
Corresponding author
Ober, Carole
ORCID
Venue
Nature Reviews Genetics
Publisher
Springer Science and Business Media LLC
Published
2008-12
Volume
9
Issue
12
Pages
911-922
ISSN
  • 1471-0056 (ISSN-L)
  • 1471-0064
DOI
10.1038/nrg2415
PMC
PMC2694620
OpenAlex
W2073640336
Cited by
787
References
141
Citations by year
2026: 38 · 2025: 45 · 2024: 45 · 2023: 44 · 2022: 76 · 2021: 65 · 2020: 50 · 2019: 34 · 2018: 43 · 2017: 47 · 2016: 52 · 2015: 46 · 2014: 47 · 2013: 46 · 2012: 34
FWCI
3.75
Type
journal article
Language
en
Open access
Licence
Locations
  • Nature Reviews Genetics (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • Alfred P. Sloan Foundation
  • National Heart, Lung, and Blood Institute (T32-HL07605, HL070831, R01HL092206, F32HL095268, HL085197, R01HL085197, P01HL070831, T32HL007605)
  • National Institute of General Medical Sciences (GM077959, R01GM077959)
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD021244, HD021244)
Topics
  • 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
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Keywords
sex differences, genotype by sex interaction, sexual dimorphism, disease risk, differential gene regulation, disease-associated genes, cardiovascular disease, autoimmune disease, asthma, reproductive traits, immune system
MeSH terms
Animals, Asthma, Autoimmune Diseases, Cardiovascular Diseases, Disease, Female, Gene Expression Regulation, Genotype, Humans, Male, Sex Characteristics, Genetic Predisposition to Disease, Quantitative Trait Loci

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