Related Experiment Video
Updated: Dec 10, 2025
10:17
An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
23.2K
Sex-specific genetic effects across biomarkers
Emily Flynn1, Yosuke Tanigawa2, Fatima Rodriguez3
1Biomedical Informatics Training Program, Stanford University, Stanford, CA, USA. erflynn@stanford.edu.
European Journal of Human Genetics : EJHG
|September 3, 2020
Summary
Genetic differences in biomarkers between sexes are largely unknown. This study reveals shared genetics for most traits, but significant sex-specific genetic factors for testosterone, impacting health conditions.
Area of Science:
- Genetics
- Endocrinology
- Biomarker Research
Background:
- Sex differences are observed in laboratory biomarkers, but the genetic basis remains unclear.
- Understanding genetic contributions to sex-specific biomarker variation is crucial for personalized medicine.
Purpose of the Study:
- To infer sex-specific genetic parameters for 33 quantitative biomarker traits.
- To identify genetic variants with sex-specific associations with biomarker traits.
- To investigate the causal relationships between sex-specific testosterone genetics and health outcomes.
Main Methods:
- Utilized the Sex Effects Mixture Model (SEMM) on UK Biobank data (181,064 females, 156,135 males).
- Applied Genome-wide Association Study (GWAS) summary statistics to estimate heritability and genetic correlations.
- Employed Mendelian randomization and sex-specific polygenic risk scores.
Main Results:
- Most biomarker genetics are shared between sexes, except for testosterone.
- Identified 119 female and 445 male-specific variants for testosterone, including in steroid hormone production genes.
- Found causal links between testosterone levels and height, BMI, waist/hip circumference, and type 2 diabetes.
Conclusions:
- Sex plays a limited role in the genetics of most biomarker traits.
- Testosterone genetics exhibit significant sex-specific effects.
- Sex-specific genetic models for testosterone improve risk prediction for related health conditions.
Related Concept Videos
02:45The Ratio of X Chromosome to Autosomes
9.2K
In most organisms, sex is determined by the ratio of X and Y chromosomes. However, in some organisms, such as Drosophila and C.elegans, sex is determined by the ratio of the number of X chromosomes to the number of sets of autosomes. The Y chromosome in Drosophila is active but does not determine sex. It contains genes responsible for the production of sperms in adult flies.
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female...
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female...
9.2K
01:19X-linked Traits
57.8K
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
57.8K
01:28Human Genetics
1.2K
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
1.2K
01:23Behavioral Genetics and Its Designs
826
Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
826
01:18Polygenic Traits
68.4K
When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
68.4K
01:43Sex-linked Disorders
107.0K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
107.0K