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Phenotypic variance partitioning by transcriptomic gene expression levels and environmental variables for
Pastor Jullian Fabres1,2,3, S Hong Lee1,2,3
1Australian Centre for Precision Health, University of South Australia, Adelaide, South Australia, Australia.
Genetic Epidemiology
|June 15, 2023
Summary
Genetic and environmental factors significantly influence human traits. Gene expression in visceral adipose tissue explains 68% of body mass index (BMI) variance, highlighting genetics
Area of Science:
- Human Genetics
- Environmental Science
- Systems Biology
Background:
- Phenotypic variation arises from complex interactions between genetic makeup and environmental influences.
- Traditional genome-wide association studies often explain only a small fraction of phenotypic variance for complex traits.
- Understanding the interplay of gene expression and environmental factors is crucial for a comprehensive view of phenotype determination.
Purpose of the Study:
- To partition phenotypic variance for anthropometric traits using gene expression data and environmental variables.
- To investigate the contribution of transcriptomic and environmental factors to body mass index (BMI) variation.
- To estimate transcriptome-environment correlations underlying anthropometric phenotypes.
Main Methods:
- Utilized gene expression data from four relevant tissues (visceral adipose, skeletal muscle, blood) from the GTEx database.
- Incorporated environmental variables including age, sex, ancestry, smoking, and alcohol consumption.
- Applied variance partitioning methods to quantify the contributions of genetic (gene expression) and environmental factors.
Main Results:
- Gene expression in visceral adipose tissue explained a substantial proportion (0.68) of BMI phenotypic variance.
- Environmental factors (age, sex, ancestry, smoking, alcohol) showed a small but significant impact (0.005) on BMI.
- A significant negative transcriptome-environment correlation (-0.54) for BMI in visceral adipose tissue suggests antagonistic effects.
Conclusions:
- Phenotypic variance can be effectively partitioned using gene expression and environmental data, even with modest sample sizes.
- Gene expression in specific tissues, like visceral adipose tissue, plays a dominant role in determining BMI.
- The findings highlight the importance of considering both transcriptomic and environmental interactions for understanding complex traits.
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