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Related Experiment Video

Updated: Jan 8, 2026

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

Mapping rare protein-coding variants on multi-organ imaging traits.

Yijun Fan¹, Jie Chen², Zirui Fan³

¹Department of Statistics, University of Chicago, Chicago, IL, USA.

Nature Communications

|December 23, 2025

Summary

This summary is machine-generated.

This study explored rare genetic variations and their impact on human organ structure and function using magnetic resonance imaging (MRI) data from over 50,000 individuals. Researchers identified significant gene-trait associations, enhancing our understanding of organ morphology and disease connections.

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Last Updated: Jan 8, 2026

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Area of Science:

Genetics
Medical Imaging
Human Physiology

Background:

Human organ structure and function are key indicators of clinical outcomes.
Genome-wide association studies (GWAS) have linked common genetic variants to brain and body phenotypes from magnetic resonance imaging (MRI).
The impact of rare protein-coding variations on organ size and function remains largely unexplored.

Purpose of the Study:

To conduct an exome-wide association study (EWAS) investigating rare genetic variants across multiple organ systems.
To evaluate 596 multi-organ MRI traits in a large cohort to uncover novel genetic associations.
To understand the role of rare coding variations in human organ morphology and function.

Main Methods:

Performed an exome-wide association study on 596 multi-organ MRI traits.
Analyzed data from over 50,000 individuals in the UK Biobank.
Utilized singleton burden models and AlphaMissense annotations to identify gene-trait pairs.

Main Results:

Identified 107 variant-level and 224 gene-based associations across various MRI modalities.
Discovered specific associations, including PTEN with total brain volume, TTN with heart function, and TNFRSF13B with spleen volume.
Found 8 unique gene-trait pairs using singleton burden models and AlphaMissense, including a link between KCNA5 and brain activity.

Conclusions:

Rare coding variants significantly contribute to understanding genetic effects on human organ morphology and function.
The findings highlight shared genetic influences across different organs and prioritize loci identified by previous GWAS.
The study identified numerous drug targets and provides insights into the genetic underpinnings of complex diseases.