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Chromosomal inversion polymorphisms shape human brain morphology.

Hao Wang¹, Carolina Makowski¹, Yanxiao Zhang²

¹Center for Multimodal Imaging and Genetics, University of California San Diego, La Jolla, CA 92093, USA.

|July 28, 2023

Summary

This summary is machine-generated.

Common chromosomal inversions significantly impact human brain structure, influencing cortical and subcortical morphology. These genetic variations are crucial for understanding brain development and neuropsychiatric conditions.

Keywords:

CP: Genomics CP: Neuroscience brain morphology gene regulation inversion polymorphism magnetic resonance imaging molecular QTL neurodevelopment segmental duplication structural variant

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Area of Science:

Neurogenetics
Human Genetics
Brain Morphology

Background:

The influence of chromosomal inversions on human brain morphology is not well understood.
Chromosomal inversions are common structural variations in the human genome.
Understanding their impact is key to deciphering brain development and disease.

Purpose of the Study:

To investigate the association between common chromosomal inversions and human brain morphology.
To identify specific inversions linked to variations in cortical and subcortical structures.
To explore the role of these inversions in shaping brain phenotypes.

Main Methods:

Genotyping of 33,018 adults of European ancestry to identify 35 common inversions.
Genome-wide association study to assess the link between inversions and brain morphology.
Analysis of cortical and subcortical brain structures.

Main Results:

Five inversions (2p22.3, 16p11.2, 17q21.31, 8p23.1, 6p21.33) showed genome-wide significant associations with brain morphology.
The 17q21.31 inversion region, near the MAPT gene, is a major locus influencing cortical patterning.
Most inversions were associated with decreased brain size, but 2p22.3 increased subcortical volume and 8p23.1 increased motor cortex volume.
Significant inversions are located in genomic hotspots for neuropsychiatric disorders.

Conclusions:

Chromosomal inversions represent significant genetic variation impacting human brain morphology.
These findings are generalizable to children and highlight inversions as critical factors in brain phenotypes.
Inversions play a substantial role in shaping brain structure and may contribute to neuropsychiatric conditions.