Evidence · Replicated

What the research found

In the cited research, the G allele at rs3827760 was associated with more strongly shovel-shaped upper front teeth.

AA: Less scooped
AG: Middle
GG: More scooped

Strong effect

What the study found

In the study, the average average shovelling grade of the upper central incisors on the Arizona State University dental scale, by genotype:

AANo copy: 1.93 grade points
AGOne copy: 2.52 grade points
GGTwo copies: 3.26 grade points

Japanese adults from Tokyo (dental hospital patients) and the Sakishima Islands · Results (genotype averages: TT 1.93, CT 2.52, CC 3.26); Table 2

Evidence: Candidate-gene association with independent replication
Who was studied: Japanese adults from Tokyo and the Sakishima Islands; replicated in Korean and Japanese subjects

1000 Genomes Project

How common each genotype is

How common each genotype is in the 1000 Genomes Project, by region
Region	AALess scooped	AGMiddle	GGMore scooped
All regions2,504 people	71%	10%	19%
Africa661 people	>99%	<1%	<1%
The Americas347 people	43%	35%	22%
East Asia504 people	2%	21%	77%
Europe503 people	98%	2%	Not seen
South Asia489 people	97%	3%	Not seen

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	0%0 of 66 copies read
First farmers6500 to 3000 BC	1%7 of 1,022 copies read
Bronze Age3000 to 1200 BC	2%18 of 967 copies read
Iron Age and Antiquity1200 BC to AD 600	2%24 of 1,160 copies read
Middle AgesAD 600 to 1500	12%73 of 602 copies read
Today1000 Genomes	1%11 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.

rs3827760

The marker

Gene or region: EDAR
Marker: rs3827760
Location: Chromosome 2 · GRCh37 109,513,601 · GRCh38 108,897,145
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: EDAR · rs3827760
Location: Chromosome 2 · GRCh37 109,513,601 · GRCh38 108,897,145
Studied allele: G
Published statistic: 0.702 grade points per 1540C (forward G) allele, P 1.5e-10, R² 0.189 (Table 2, T1540C as the only explanatory variable); with sex and region 0.677, P 8.8e-10, R² 0.199 (Table 2); Spearman rho 0.42, P 7.7e-10 overall, 0.37 (P 1.2e-4) in Tokyo and 0.46 (P 2.1e-6) in Sakishima (Table 1, Results); shovelling graded 0 to 7 on the ASU system (Methods); n 102 Tokyo and 100 Sakishima (Results (genotype averages: TT 1.93, CT 2.52, CC 3.26); Table 2)
1000 Genomes Project phase 3, people with 0, 1 and 2 copies: All regions 1788 / 252 / 464 · Africa 658 / 2 / 1 · The Americas 150 / 122 / 75 · East Asia 12 / 104 / 388 · Europe 492 / 11 / 0 · South Asia 476 / 13 / 0

See this card in the sample report

Limits

What it cannot tell you

The studied allele is common mainly in East Asian and Native American ancestry; most people of European, African or South Asian ancestry carry no copies. Studied in Japanese adults.

A common variation in EDAR is a genetic determinant of shovel-shaped incisors (Kimura et al., 2009)

The same topic

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