SynthesisHuman molecular genetics2018
Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair.
Synthesis in Human molecular genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 78 citations in OpenAlex.
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- An in silico protocol for predicting genetic biomarkers in rare diseases: a case study in sporadic amyotrophic lateral sclerosis.Frontiers in genetics · 2026Article
- A Comprehensive Review of GWASs of Human Hair Traits.The Journal of investigative dermatology · 2025Review
- Forensic skeletal and molecular anthropology face to face: Combining expertise for identification of human remains.Annals of the New York Academy of Sciences · 2025Review
- Forensic DNA phenotyping: a review on SNP panels, genotyping techniques, and prediction models.Forensic sciences research · 2025Review
- DNA-based prediction of external ear morphology in the Chinese population: an exploratory study.PeerJ · 2025Article
- Genetics of Wool and Cashmere Fibre: Progress, Challenges, and Future Research.Animals : an open access journal from MDPI · 2024Article
- Changing human hair fibre colour and shape from the follicle.Journal of advanced research · 2024Article
- The First Crested Duck Genome Reveals Clues to Genetic Compensation and Crest Cushion Formation.Genomics, proteomics & bioinformatics · 2023Article
- Review
- Evidence of Selection in the Ectodysplasin Pathway among Endangered Aquatic Mammals.Integrative organismal biology (Oxford, England) · 2022Article
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- HOXC13 promotes cervical cancer proliferation, invasion and Warburg effect through β-catenin/c-Myc signaling pathway.Journal of bioenergetics and biomembranes · 2021Article
- Protein-coding repeat polymorphisms strongly shape diverse human phenotypes.Science (New York, N.Y.) · 2021Article
- Gene 33/Mig6/ERRFI1, an Adapter Protein with Complex Functions in Cell Biology and Human Diseases.Cells · 2021Review
- High-throughput phenotyping methods for quantifying hair fiber morphology.Scientific reports · 2021Article
- Analysis of histology and long noncoding RNAs involved in the rabbit hair follicle density using RNA sequencing.BMC genomics · 2021Article
- Single-Cell Transcriptomics Reveals the Molecular Anatomy of Sheep Hair Follicle Heterogeneity and Wool Curvature.Frontiers in cell and developmental biology · 2021Article
- Mapping of cis-acting expression quantitative trait loci in human scalp hair follicles.BMC dermatology · 2020Article
- Extreme enrichment of VNTR-associated polymorphicity in human subtelomeres: genes with most VNTRs are predominantly expressed in the brain.Translational psychiatry · 2020Article
Corrections and comments
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Authors and funding
34 authors at 16 institutions in 13 countries.
Funding
Abstract
Shape variation of human head hair shows striking variation within and between human populations, while its genetic basis is far from being understood. We performed a series of genome-wide association studies (GWASs) and replication studies in a total of 28 964 subjects from 9 cohorts from multiple geographic origins. A meta-analysis of three European GWASs identified 8 novel loci (1p36.23 ERRFI1/SLC45A1, 1p36.22 PEX14, 1p36.13 PADI3, 2p13.3 TGFA, 11p14.1 LGR4, 12q13.13 HOXC13, 17q21.2 KRTAP, and 20q13.33 PTK6), and confirmed 4 previously known ones (1q21.3 TCHH/TCHHL1/LCE3E, 2q35 WNT10A, 4q21.21 FRAS1, and 10p14 LINC00708/GATA3), all showing genome-wide significant association with hair shape (P < 5e-8). All except one (1p36.22 PEX14) were replicated with nominal significance in at least one of the 6 additional cohorts of European, Native American and East Asian origins. Three additional previously known genes (EDAR, OFCC1, and PRSS53) were confirmed at the nominal significance level. A multivariable regression model revealed that 14 SNPs from different genes significantly and independently contribute to hair shape variation, reaching a cross-validated AUC value of 0.66 (95% CI: 0.62-0.70) and an AUC value of 0.64 in an independent validation cohort, providing an improved accuracy compared with a previous model. Prediction outcomes of 2504 individuals from a multiethnic sample were largely consistent with general knowledge on the global distribution of hair shape variation. Our study thus delivers target genes and DNA variants for future functional studies to further evaluate the molecular basis of hair shape in humans.
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