Scientists Identify 124 New Genes that Determine Hair Color

Researchers have discovered 124 genes that play a major role in determining human hair color variation. The findings were published online this week in the journal Nature Genetics.

Hysi et al identified 123 autosomal and one X-chromosome loci significantly associated with hair color. Image credit: Kristyna Matlachova.

Hysi et al identified 123 autosomal and one X-chromosome loci significantly associated with hair color. Image credit: Kristyna Matlachova.

In order to identify the previously unknown hair color genes, Professor Tim Spector of King’s College London and colleagues analyzed DNA data from 290,891 people of European descent, together with their self-reported hair color information. The data were supplied by UK Biobank and 23andMe Inc.

By comparing the hair color of the group with their genetic information, the study authors identified 124 genes (123 genes on the autosomal chromosomes and one gene on the X-chromosome) involved in the development of hair color, of which more than 100 were not previously known to influence pigmentation.

They also demonstrated that predicting hair color with this new genetic information is more accurate than with previously known genes.

“This work will impact several fields of biology and medicine. As the largest ever genetic study on pigmentation, it will improve our understanding of diseases like melanoma, an aggressive form of skin cancer,” Professor Spector said.

The genes that affect hair color also affect other cancer types, while other pigment genes affect the chances of having Crohn’s and other forms of bowel disease.

“Our work helps us to understand what causes human diversity in appearance by showing how genes involved in pigmentation subtly adapted to external environments and even social interactions during our evolution,” Professor Spector noted.

“We found that women have significantly fairer hair than men, which reflects how important cultural practices and sexual preferences are in shaping our genes and biology.”

“Besides substantially increasing our understanding of human pigmentation genetics in general, finding these new hair color genes is also important for further increasing the accuracy of hair color prediction from DNA traces in future forensic applications, which can help to find unknown perpetrators of crime,” said co-lead author Professor Manfred Kayser, from the Erasmus MC University Medical Center Rotterdam in the Netherlands.

“While the genetics of hair color is an interesting problem in itself, we hope that better understanding of the biology of melanin pigmentation will be applicable to studies of diseases that interact with pigmentation, such as skin cancer or vitiligo,” said co-author Dr. David Hinds, principal scientist at 23andMe Inc.

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Pirro G. Hysi et al. Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability. Nature Genetics, published online April 16, 2018; doi: 10.1038/s41588-018-0100-5

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