Evidence · Not yet replicated

What the research found

In the cited research, the C allele at rs17023457 was associated with less prominent folding of the antihelix in the studied cohort.

TT: More folded
CT: Middle
CC: Less folded

Modest effect

What the study found

In the study, each copy went with antihelix folding rating from photos, on a three level scale from weak to prominent about 0.09 points lower on average.

Admixed Latin American CANDELA participants from Brazil, Chile, Colombia, Mexico and Peru · 4,919 people · Supplementary Table 8B (rs17023457, folding of antihelix)

Evidence: Discovery GWAS of ordinal ear morphology
Who was studied: Admixed Latin American CANDELA participants from Brazil, Chile, Colombia, Mexico and Peru

1000 Genomes Project

How common each genotype is

How common each genotype is in the 1000 Genomes Project, by region
Region	TTMore folded	CTMiddle	CCLess folded
All regions2,504 people	69%	24%	7%
Africa661 people	99%	1%	<1%
The Americas347 people	47%	37%	16%
East Asia504 people	35%	47%	18%
Europe503 people	70%	28%	2%
South Asia489 people	79%	19%	2%

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	52%28 of 54 copies read
First farmers6500 to 3000 BC	21%157 of 748 copies read
Bronze Age3000 to 1200 BC	20%129 of 637 copies read
Iron Age and Antiquity1200 BC to AD 600	20%166 of 846 copies read
Middle AgesAD 600 to 1500	20%109 of 558 copies read
Today1000 Genomes	16%161 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.

rs17023457

The marker

Gene or region: 1p12 / CART1 binding-site region
Marker: rs17023457
Location: Chromosome 1 · GRCh37 119,875,730 · GRCh38 119,333,107
Letters studied: C and T, with C 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: 1p12 / CART1 binding-site region · rs17023457
Location: Chromosome 1 · GRCh37 119,875,730 · GRCh38 119,333,107
Studied allele: C
Published statistic: beta -0.087 per C allele, P 1e-11 (Results), country meta-analysis P 3.0e-11 (Supplementary Table 6), n 4,919; C also lowers antitragus size (beta -0.060); in reporter assays C lowered expression by 36% and 22% (forward and reverse orientation) and lost CART1 binding (Results) (Supplementary Table 8B (rs17023457, folding of antihelix))
1000 Genomes Project phase 3, people with 0, 1 and 2 copies: All regions 1731 / 607 / 166 · Africa 653 / 7 / 1 · The Americas 162 / 128 / 57 · East Asia 178 / 237 / 89 · Europe 352 / 141 / 10 · South Asia 386 / 94 / 9

See this card in the sample report

Limits

What it cannot tell you

This small association concerns an ordinal ear-shape feature rated in photographs. Ear shape depends on many genes; this single marker cannot tell you your ear shape and does not follow a simple dominant or recessive rule. Only the studied C/T allele pair is interpreted.

A genome-wide association study identifies multiple loci for variation in human ear morphology (Adhikari et al., 2015)

The same topic

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