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Comparison of Genome-Wide Association Scans for Quantitative and Observational Measures of Human Hair Curvature

Published online by Cambridge University Press:  16 November 2020

Yvonne Y. W. Ho
Affiliation:
Psychiatric Genetics, Genetics and Computational Biology Department, QIMR Berghofer Medical Research Institute, Brisbane, Australia
Angela Mina-Vargas
Affiliation:
Psychiatric Genetics, Genetics and Computational Biology Department, QIMR Berghofer Medical Research Institute, Brisbane, Australia
Gu Zhu
Affiliation:
Psychiatric Genetics, Genetics and Computational Biology Department, QIMR Berghofer Medical Research Institute, Brisbane, Australia
Mark Brims
Affiliation:
BSC Electronics Pty Ltd, Ardross, Australia
Dennis McNevin
Affiliation:
Centre for Forensic Science, School of Mathematical & Physical Sciences, Faculty of Science, University of Technology Sydney, Sydney, Australia
Grant W. Montgomery
Affiliation:
Psychiatric Genetics, Genetics and Computational Biology Department, QIMR Berghofer Medical Research Institute, Brisbane, Australia Institute for Molecular Bioscience, University of Queensland, Brisbane, Australia
Nicholas G. Martin
Affiliation:
Genetic Epidemiology, Genetics and Computational Biology Department, QIMR Berghofer Medical Research Institute, Brisbane, Australia
Sarah E. Medland
Affiliation:
Psychiatric Genetics, Genetics and Computational Biology Department, QIMR Berghofer Medical Research Institute, Brisbane, Australia
Jodie N. Painter*
Affiliation:
Psychiatric Genetics, Genetics and Computational Biology Department, QIMR Berghofer Medical Research Institute, Brisbane, Australia
*
Author for correspondence: Jodie N. Painter, Email: Jodie.Painter@qimrberghofer.edu.au
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Abstract

Previous genetic studies on hair morphology focused on the overall morphology of the hair using data collected by self-report or researcher observation. Here, we present the first genome-wide association study (GWAS) of a micro-level quantitative measure of hair curvature. We compare these results to GWAS results obtained using a macro-level classification of observable hair curvature performed in the same sample of twins and siblings of European descent. Observational data were collected by trained observers, while quantitative data were acquired using an Optical Fibre Diameter Analyser (OFDA). The GWAS for both the observational and quantitative measures of hair curvature resulted in genome-wide significant signals at chromosome 1q21.3 close to the trichohyalin (TCHH) gene, previously shown to harbor variants associated with straight hair morphology in Europeans. All genetic variants reaching genome-wide significance for both GWAS (quantitative measure lead single-nucleotide polymorphism [SNP] rs12130862, p = 9.5 × 10–09; observational measure lead SNP rs11803731, p = 2.1 × 10–17) were in moderate to very high linkage disequilibrium (LD) with each other (minimum r2 = .45), indicating they represent the same genetic locus. Conditional analyses confirmed the presence of only one signal associated with each measure at this locus. Results from the quantitative measures reconfirmed the accuracy of observational measures.

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Articles
Copyright
© The Author(s), 2020. Published by Cambridge University Press

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Footnotes

*

Equal first authors

References

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