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Biological sex affects gene expression and functional variation across the human genome
Angela G Jones1,2, Guinevere G Connelly1, Trisha Dalapati1,2
1Department of Molecular Genetics and Microbiology, School of Medicine, Duke University; Durham, NC, USA.
Medrxiv : the Preprint Server for Health Sciences
|September 16, 2024
Summary
Genetic factors significantly impact human sexual dimorphism and disease risk. This study identifies numerous sex-biased expression quantitative trait loci (sb-eQTL) linked to various health conditions.
Area of Science:
- Genetics
- Immunology
- Genomics
Background:
- Sexual dimorphism is prevalent in humans, yet its genetic underpinnings and disease implications remain largely unexplored.
- Understanding sex-biased gene expression is crucial for deciphering sex differences in health and disease.
Purpose of the Study:
- To investigate the genetic mechanisms driving sexual dimorphism in gene expression.
- To identify sex-biased expression quantitative trait loci (sb-eQTL) and their association with human diseases.
Main Methods:
- Analysis of single-cell RNA sequencing data from 480 lymphoblastoid cell lines.
- Development of a novel two-step regression method to detect genome-wide sb-eQTL.
- Enrichment analysis of sb-eQTL with Genome-Wide Association Study (GWAS) phenotypes.
Main Results:
- The majority (79%) of sex-biased genes are regulated by sex-biased transcription factors.
- Identification of 10,754 significant and reproducible sb-eQTL.
- sb-eQTL are significantly enriched in over 600 GWAS phenotypes, including multiple sclerosis.
Conclusions:
- Widespread genetic influences contribute to sexual dimorphism in humans.
- Identified sb-eQTL offer potential mechanisms and clinical targets for sex-specific disease variations.
- This research provides a foundation for understanding genetic contributions to sex differences in health.
Keywords:
FOSL1GxE interactionX chromosomeZFXautoimmunityexpression quantitative trait locigene expressionscHi-HOSTsex chromosomessex differencesMore Related Videos
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