Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
QIMR Home Page
GenEpi Home Page
About GenEpi
Publications
Contacts
Research
Staff Index
Collaborators
Software Tools
Computing Resources
Studies
Search
GenEpi Intranet
PMID
33190678
TITLE
Comparison of Genome-Wide Association Scans for Quantitative and Observational Measures of Human Hair Curvature.
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.
DATE PUBLISHED
2020 Nov 16
HISTORY
PUBSTATUS PUBSTATUSDATE
entrez 2020/11/16 05:26
pubmed 2020/11/17 06:00
medline 2020/11/17 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Ho YYW Ho Yvonne Y W YYW Psychiatric Genetics, Genetics and Computational Biology Department, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Mina-Vargas A Mina-Vargas Angela A Psychiatric Genetics, Genetics and Computational Biology Department, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Zhu G Zhu Gu G Psychiatric Genetics, Genetics and Computational Biology Department, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Brims M Brims Mark M BSC Electronics Pty Ltd, Ardross, Australia.
McNevin D McNevin Dennis D Centre for Forensic Science, School of Mathematical & Physical Sciences, Faculty of Science, University of Technology Sydney, Sydney, Australia.
Montgomery GW Montgomery Grant W GW Institute for Molecular Bioscience, University of Queensland, Brisbane, Australia.
Martin NG Martin Nicholas G NG Genetic Epidemiology, Genetics and Computational Biology Department, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Medland SE Medland Sarah E SE Psychiatric Genetics, Genetics and Computational Biology Department, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Painter JN Painter Jodie N JN Psychiatric Genetics, Genetics and Computational Biology Department, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
INVESTIGATORS
JOURNAL
VOLUME:
ISSUE:
TITLE: Twin research and human genetics : the official journal of the International Society for Twin Studies
ISOABBREVIATION: Twin Res Hum Genet
YEAR: 2020
MONTH: Nov
DAY: 16
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1832-4274
ISSNTYPE: Print
MEDLINE JOURNAL
MEDLINETA: Twin Res Hum Genet
COUNTRY: England
ISSNLINKING: 1832-4274
NLMUNIQUEID: 101244624
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
COMMENTS AND CORRECTIONS
GRANTS
GENERAL NOTE
KEYWORDS
KEYWORD
Genome-wide association study
SNPs
TCHH gene
human hair shape
MESH HEADINGS
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
OTHER ID's