Understanding the cellular mechanisms underlying variation in human hair fibre traits remains a key challenge in cosmetic science and trichology. Large-scale genetic and sequencing studies have identified numerous loci associated with traits such as hair pigmentation, fibre shape, and thickness; however, these approaches do not directly reveal which hair follicle cell types mediate these effects. To address this, we developed Hair Score, a computational pipeline that integrates diverse genetic dataset such as human genome-wide association studies (GWAS) and other relevant sequencing data from other species with transcriptomic profiles of hair follicle cell populations.
The Hair Score pipeline maps trait-associated genes onto transcriptomic datasets representing distinct follicular cell types. Gene expression within each population is quantified and aggregated to generate a cumulative score reflecting the relative contribution of each cell type to the biology of a given hair fibre trait. This enables systematic identification of follicular compartments most likely to influence fibre properties.
Application of Hair Score to datasets relating to hair pigmentation, strand shape, and thickness revealed distinct cell-type associations across traits. For pigmentation, melanocytes emerged as the highest-scoring contributors when using cheetah RNAseq data, consistent with their central role in pigment production. In addition, signals from adjacent follicular cell populations were observed, highlighting intercellular communication within the follicle. EDN3 was prioritised as a secreted protein, supporting a role for signalling between follicular cells that regulate melanocyte activity and ultimately hair colour.
For hair shape, the inner root sheath was the strongest-associated cell population, consistent with its role in guiding the emerging fibre.
Together, these findings demonstrate that integrating genetic and transcriptomic data can reveal the cellular context underlying human hair fibre traits. The Hair Score provides a scalable framework for linking genetic discoveries to specific follicular cell types and signalling pathways, the identification of novel targets for cosmetic science.