Evidence · Replicated

What the research found

In the cited research, the T allele at rs10810635 was associated with reporting freckles less often in the studied East Asian cohorts.

CC: More often
CT: Middle
TT: Less often

Slight effect

Evidence: Genome-wide association with independent replication
Who was studied: East Asian ancestry (Japanese women; Chinese men and women)

1000 Genomes Project

How common each genotype is

How common each genotype is in the 1000 Genomes Project, by region
Region	CCMore often	CTMiddle	TTLess often
All regions2,504 people	5%	23%	72%
Africa661 people	<1%	11%	88%
The Americas347 people	11%	39%	50%
East Asia504 people	10%	38%	52%
Europe503 people	<1%	11%	88%
South Asia489 people	5%	27%	68%

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	95%41 of 43 copies read
First farmers6500 to 3000 BC	94%671 of 714 copies read
Bronze Age3000 to 1200 BC	93%571 of 616 copies read
Iron Age and Antiquity1200 BC to AD 600	92%769 of 840 copies read
Middle AgesAD 600 to 1500	86%412 of 478 copies read
Today1000 Genomes	94%942 of 1,006 copies

Neanderthal and Denisovan genomes

Altai Neanderthal: Not read
Vindija Neanderthal: Not read
Chagyrskaya Neanderthal: 2 copies
Denisovan: Not read

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.

rs10810635

The marker

Gene or region: BNC2
Marker: rs10810635
Location: Chromosome 9 · GRCh37 16,795,241 · GRCh38 16,795,243
Letters studied: C and T, with T 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: BNC2 · rs10810635
Location: Chromosome 9 · GRCh37 16,795,241 · GRCh38 16,795,243
Studied allele: T
Published statistic: OR 0.76 per T allele for freckles (95 per cent CI 0.72 to 0.80), meta-analysis P 2.1e-22 with P 3.5e-12 and 9.4e-12 in two independent Japanese sample sets (Endo 2018 Table 1); Chinese replication through rs4455968, which has r2 0.84 with this marker in 1000 Genomes East Asians: OR 1.32 (1.21 to 1.44) per its T allele, P 5.72e-10, validation OR 1.36, P 5.41e-4, n 8,251 (Wang 2022 Supplementary Table 3) (Table 1 (Freckles, rs10810635))
1000 Genomes Project phase 3, people with 0, 1 and 2 copies: All regions 122 / 586 / 1796 · Africa 4 / 75 / 582 · The Americas 38 / 134 / 175 · East Asia 52 / 190 / 262 · Europe 5 / 54 / 444 · South Asia 23 / 133 / 333

See this card in the sample report

Limits

What it cannot tell you

Studied in East Asian ancestry only, separate from the BNC2 markers on the tanning and facial pigmented spots cards, and both studies recorded only whether people reported freckles.

Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations (Endo et al., 2018)

The same topic

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