Evidence · Replicated

What the research found

In the cited research, the G allele at rs12913832 was associated with lighter natural hair colour.

AA: Darker range
AG: Middle
GG: Lighter range

Clear effect

What the study found

In the study, each copy went with lower natural hair colour on a scale from blond (lowest) to black (highest) on average.

23andMe research participants of European ancestry · 150,172 people · Supplementary Table 2 (rs12913832 row, 23andMe columns: N 150172, beta 0.4857 SD per A, SE 0.0040; flipped to G) and its caption (betas in SD units)

Evidence: Replicated genome-wide association
Who was studied: Primarily European ancestry

1000 Genomes Project

How common each genotype is

How common each genotype is in the 1000 Genomes Project, by region
Region	AADarker range	AGMiddle	GGLighter range
All regions2,504 people	75%	15%	10%
Africa661 people	95%	5%	<1%
The Americas347 people	65%	29%	6%
East Asia504 people	>99%	<1%	Not seen
Europe503 people	18%	37%	45%
South Asia489 people	86%	13%	<1%

Among the 2,504 people of the 1000 Genomes Project, in five world regions. These percentages describe groups of people, never anyone’s chance of having a trait.

Ancient genomes

Through time

How often the studied letter was read in ancient people, era by era, in the region chosen.

Region

Through time: Europe
Before farmingbefore 6500 BC	41%28 of 68 copies read
First farmers6500 to 3000 BC	39%369 of 956 copies read
Bronze Age3000 to 1200 BC	36%330 of 915 copies read
Iron Age and Antiquity1200 BC to AD 600	45%506 of 1,123 copies read
Middle AgesAD 600 to 1500	47%284 of 609 copies read
Today1000 Genomes	64%640 of 1,006 copies

Neanderthal and Denisovan genomes

Altai Neanderthal: No copies
Vindija Neanderthal: No copies
Chagyrskaya Neanderthal: No copies
Denisovan: No copies

Neanderthals and Denisovans carried the other letter, so this letter is younger than our split with them.

For most ancient people only one of their two copies can be read, so these counts are copies read, not people. Close relatives, repeated samples and samples the archive marks as unreliable are left out. Damage in old DNA can fake this letter, so it is counted only from samples treated to remove that damage and from high-quality genomes. Ancient genomes from the Allen Ancient DNA Resource (AADR v66): 15,136 people.

rs12913832

The marker

Gene or region: HERC2 / OCA2
Marker: rs12913832
Location: Chromosome 15 · GRCh37 28,365,618 · GRCh38 28,120,472
Letters studied: A and G, with G as the studied allele

A DNA Traits report reads this marker in your raw DNA file and shows which of the three genotypes is yours, with how common it is. It counts the copies of the studied allele; it does not measure the trait itself.

Marker: HERC2 / OCA2 · rs12913832
Location: Chromosome 15 · GRCh37 28,365,618 · GRCh38 28,120,472
Studied allele: G
Published statistic: Hysi 2018 per A toward black: 0.517 SD UK Biobank (N 133,238), 0.486 SD 23andMe (N 150,172), meta-analysis 0.499 SD, VisiGen replication z 35.23 (Supplementary Table 2). Morgan 2018: A OR 0.213 for blonde against brown or black, i.e. 4.69 per G, P 2.25e-308 (Supplementary Table 4), and 0.449 for brown against black (Supplementary Table 7). Discovery: Han 2008, -0.38 per A on black (1) to blonde (4), P 2.7e-56, 2,287 women (Table 2), and 10.7% of residual variance (Results); Zhang 2013, +0.39 per A toward black on a 1 blond to 4 black scale, P 1.4e-167 (Table 6), in NHS and HPFS sets that include Han's first scan, so not an independent replication; 0.49 SD per copy (Supplementary Table 2 (rs12913832 row, 23andMe columns: N 150172, beta 0.4857 SD per A, SE 0.0040; flipped to G) and its caption (betas in SD units))
1000 Genomes Project phase 3, people with 0, 1 and 2 copies: All regions 1867 / 386 / 251 · Africa 626 / 33 / 2 · The Americas 227 / 100 / 20 · East Asia 502 / 2 / 0 · Europe 90 / 186 / 227 · South Asia 422 / 65 / 2

See this card in the sample report

Limits

What it cannot tell you

This is the eye pigmentation card's marker read for hair, so it is not independent evidence. One of many markers that shape hair colour.

Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability (Hysi et al., 2018)

The same topic

More in Appearance

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