Evidence · Replicated

What the research found

In the cited research, the G allele at rs7559271 was associated with a more prominent nose root between the eyes.

AA: Less prominent
AG: Middle
GG: More prominent

Modest effect

What the study found

In the study, each copy went with distance from the nose root to the point midway between the inner eye corners, on three-dimensional face scans about 0.39 mm higher on average.

UK adolescents in ALSPAC (discovery and replication samples pooled) · Paternoster 2012 Results (combined analysis: 0.388 mm, SE 0.047, P 4.1e-16) and Table 2; the Abstract rounds it to 0.39 mm

Evidence: Genome-wide association with independent replication
Who was studied: UK adolescents (ALSPAC); replicated in admixed Latin Americans (CANDELA)

1000 Genomes Project

How common each genotype is

How common each genotype is in the 1000 Genomes Project, by region
Region	AALess prominent	AGMiddle	GGMore prominent
All regions2,504 people	23%	47%	30%
Africa661 people	24%	42%	34%
The Americas347 people	21%	43%	36%
East Asia504 people	16%	46%	38%
Europe503 people	34%	53%	13%
South Asia489 people	21%	49%	29%

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	14%8 of 57 copies read
First farmers6500 to 3000 BC	45%410 of 917 copies read
Bronze Age3000 to 1200 BC	41%346 of 852 copies read
Iron Age and Antiquity1200 BC to AD 600	40%437 of 1,084 copies read
Middle AgesAD 600 to 1500	45%276 of 613 copies read
Today1000 Genomes	40%400 of 1,006 copies

Neanderthal and Denisovan genomes

Altai Neanderthal: No copies
Vindija Neanderthal: 2 copies
Chagyrskaya Neanderthal: 1 copy
Denisovan: No copies

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.

rs7559271

The marker

Gene or region: PAX3
Marker: rs7559271
Location: Chromosome 2 · GRCh37 223,068,286 · GRCh38 222,203,567
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: PAX3 · rs7559271
Location: Chromosome 2 · GRCh37 223,068,286 · GRCh38 222,203,567
Studied allele: G
Published statistic: G allele: discovery 0.169 SD (SE 0.027), P 2.2e-10, n 2,185; replication 0.161 SD (SE 0.032), P 4.0e-7, n 1,622 (Table 1; n-men mean 17.505 mm, SD 2.341 mm); combined 0.388 mm (SE 0.047), P 4.1e-16, 1.3% of variance (Table 2, Results); independent replication in CANDELA: effect 0.082 on a Procrustes-based nasion measure, P 4e-11, 1.33% of variance, n 2,955 (Adhikari 2016, Table 2) (Paternoster 2012 Results (combined analysis: 0.388 mm, SE 0.047, P 4.1e-16) and Table 2; the Abstract rounds it to 0.39 mm)
1000 Genomes Project phase 3, people with 0, 1 and 2 copies: All regions 583 / 1167 / 754 · Africa 158 / 275 / 228 · The Americas 72 / 150 / 125 · East Asia 79 / 234 / 191 · Europe 170 / 266 / 67 · South Asia 104 / 242 / 143

See this card in the sample report

Limits

What it cannot tell you

A single marker, one of many that shape the face. The figure is a distance measured on 3D face scans of UK teenagers.

Genome-wide association study of three-dimensional facial morphology identifies a variant in PAX3 associated with nasion position (Paternoster et al., 2012)

The same topic

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