DOI: 10.1101/454660Oct 26, 2018Paper

Human Handedness: Genetics, Microtubules, Neuropsychiatric Diseases and Brain Language Areas

BioRxiv : the Preprint Server for Biology
Akira WibergDominic Furniss


Background: The skew in distribution of handedness is a uniquely human trait, and has fascinated researchers for centuries. The heritability of handedness is estimated at 25%, but defining genetic variants contributing to this trait has so far proved elusive. Methods: We performed GWAS of self-reported handedness in UK Biobank, a prospective cohort study of ~500,000 individuals. Furthermore, we investigated correlations between our associated SNPs and brain imaging-derived phenotypes (IDPs) from >9,000 individuals in UK Biobank, as well as between self-reported handedness and IDPs. Results: Our association study of 38,322 left-handers vs 356,567 right-handers (excluding ambidextrous participants) revealed three genome-wide significant loci (rs199512, 17q21.31, p=4.1x10-9; rs45608532, 22q11.22, p=1.4x10-8; rs13017199, 2q34, p=3.3x10-8). In the imaging study, we found strong associations between rs199512 and diffusion MRI measures mainly in white matter tracts connecting language-related brain regions (p<2.0x10-6). Direct investigation between handedness and IDPs revealed numerous associations with functional connectivity between the same language-related areas of the brain. A second GWAS of non- right handers (n=44,631) vs right...Continue Reading

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