Related Experiment Video
Updated: Jun 28, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
Sex-specific genetic architecture of human disease
Carole Ober1, Dagan A Loisel, Yoav Gilad
1Department of Human Genetics, 920 East 58th Street, The University of Chicago, Chicago, Illinois 60637, USA. c-ober@genetics.uchicago.edu
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.
Related Concept Videos
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
Sex-linked Disorders
Pedigree Analysis
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
X and Y Chromosomes
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
The Ratio of X Chromosome to Autosomes
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female Drosophila...

