Comparison of Genome-Wide Association Scans for Quantitative and Observational Measures of Human Hair Curvature
| Autor: | Nicholas G. Martin, Jodie N. Painter, Gu Zhu, Angela Mina-Vargas, Grant W. Montgomery, Yvonne Y.W. Ho, Dennis McNevin, Sarah E. Medland, Mark Brims |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Genome-wide association study Locus (genetics) Single-nucleotide polymorphism Computational biology Biology Curvature Polymorphism Single Nucleotide Linkage Disequilibrium White People European descent 03 medical and health sciences 0302 clinical medicine Humans SNP Genetics (clinical) Genetics & Heredity Obstetrics and Gynecology Trichohyalin 030104 developmental biology Genetic Loci 1103 Clinical Sciences 1114 Paediatrics and Reproductive Medicine 1702 Cognitive Sciences Pediatrics Perinatology and Child Health Observational study 030217 neurology & neurosurgery Genome-Wide Association Study Hair |
| Zdroj: | Twin Research and Human Genetics. 23:271-277 |
| ISSN: | 1839-2628 1832-4274 |
| DOI: | 10.1017/thg.2020.78 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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