The first genome-wide association study on human scalp hair whorls identified that hair whorl direction is influenced by multiple genes, rather than a single gene. Four genetic variants likely to affect this direction were found, and the research disproved previous theories linking hair whorl patterns to neurological development.
A new study in the Journal of Investigative Dermatology uncovers the genes that dictate the direction of hair whorls.
The first gene mapping study on human scalp hair whorls not only demonstrates that hair whorl direction has a genetic basis, but also that it is influenced by multiple genes. Four associated genetic variants that are likely to influence hair whorl direction are identified, as reported in the Journal of Investigative Dermatology, published by Elsevier.
Hair Whorl Significance
A hair whorl is a patch of hair growing in a circular pattern around a point defined by hair follicle orientations. Scalp hair whorl pattern, a readily observable human trait, is usually characterized by the whorl number (single or double whorl) and whorl direction (e.g., clockwise, counterclockwise, or diffuse).
Because atypical whorl patterns have been observed in patients with abnormal neurological development, comprehending the genetic foundation of whorl patterns might help shed light on vital biological processes.
Research Process
The first genome-wide association study (GWAS) on human scalp hair whorls was conducted among 2,149 Chinese individuals from the National Survey of Physical Traits cohort. This was followed by a replication study in 1,950 Chinese individuals from the Taizhou Longitudinal Study cohort.
a) Patterns of whorl direction. (b) Manhattan plot and quantile-quantile plot from the discovery and replication cohorts. Credit: Journal of Investigative Dermatology
Lead investigator Sijia Wang, PhD, Shanghai Institute of Nutrition and Health, Chinese Academy of Sciences, explained, “We know very little about why we look like we do. Our group has been looking for the genes underlying various interesting traits of physical appearance, including fingerprint patterns, eyebrow thickness, earlobe shape, and hair curliness. Hair whorl is one of the traits that we were curious about. The prevailing opinion was that hair whorl direction is controlled by a single gene, exhibiting Mendelian inheritance. However, our results demonstrate that hair whorl direction is influenced by the cumulative effects of multiple genes, suggesting a polygenic inheritance.”
Genetic Variants and Potential Effects
The study identifies four associated genetic variants (at 7p21.3, 5q33.2, 7q33, and 14q32.13). These genetic variants are likely to influence hair whorl direction by regulating the cell polarity of hair follicles. Additionally, cranial neural tube closure and growth could play a part in this process.
Professor Wang continued, “While previous work proposed the hypothesis of associations between hair whorl patterns and abnormal neurological development, no significant genetic associations were observed between hair whorl direction and behavioral, cognitive, or neurological phenotypes. Although we still know very little about why we look like we do, we are confident that curiosity will eventually drive us to the answers.”
Reference: “GWAs Identify DNA Variants Influencing Eyebrow Thickness Variation in Europeans and Across Continental Populations” by Fuduan Peng, Ziyi Xiong, Gu Zhu, Pirro G. Hysi, Ryan J. Eller, Sijie Wu, Kaustubh Adhikari, Yan Chen, Yi Li, Rolando Gonzalez-José, Lavinia Schüler-Faccini, Maria-Cátira Bortolini, Victor Acuña-Alonzo, Samuel Canizales-Quinteros, Carla Gallo, Giovanni Poletti, Gabriel Bedoya, Francisco Rothhammer, André G. Uitterlinden, M. Arfan Ikram, Tamar Nijsten, Andrés Ruiz-Linares, Sijia Wang, Susan Walsh, Timothy D. Spector, Nicholas G. Martin, Manfred Kayser and Fan Liu on behalf of theInternational Visible Trait Genetics (VisiGen) Consortium, 19 April 2023, Journal of Investigative Dermatology.
DOI: 10.1016/j.jid.2022.11.026
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