Evidence · Replicated

What the research found

In the cited research, the G allele at rs143384 was associated with greater adult height in the studied cohorts.

AA: Lower average
AG: Middle
GG: Higher average

Slight effect

What the study found

In the study, each copy went with higher adult height on average.

European-ancestry adults in 37 independent Metabochip studies · 79,928 people · Supplementary Table 3

Evidence: Genome-wide association with independent replication
Who was studied: European-ancestry adults

1000 Genomes Project

How common each genotype is

How common each genotype is in the 1000 Genomes Project, by region
Region	AALower average	AGMiddle	GGHigher average
All regions2,504 people	27%	33%	40%
Africa661 people	Not seen	5%	95%
The Americas347 people	46%	39%	15%
East Asia504 people	51%	40%	9%
Europe503 people	35%	47%	18%
South Asia489 people	19%	44%	37%

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	47%28 of 59 copies read
First farmers6500 to 3000 BC	34%294 of 868 copies read
Bronze Age3000 to 1200 BC	48%381 of 794 copies read
Iron Age and Antiquity1200 BC to AD 600	40%409 of 1,029 copies read
Middle AgesAD 600 to 1500	39%184 of 473 copies read
Today1000 Genomes	41%414 of 1,006 copies

Neanderthal and Denisovan genomes

Altai Neanderthal: 2 copies
Vindija Neanderthal: 2 copies
Chagyrskaya Neanderthal: 2 copies
Denisovan: 2 copies

Neanderthals and Denisovans carried this letter too: it is the older of the two.

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.

rs143384

The marker

Gene or region: GDF5
Marker: rs143384
Location: Chromosome 20 · GRCh37 34,025,756 · GRCh38 35,437,976
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: GDF5 · rs143384
Location: Chromosome 20 · GRCh37 34,025,756 · GRCh38 35,437,976
Studied allele: G
Published statistic: GWAS meta-analysis: A -0.0748 SD (SE 0.0032), P 1.15e-121, N 247,786, A frequency 0.576 (Supplementary Table 1); Metabochip replication: A -0.0736 SD (SE 0.0052), P 2.92e-45, N 79,928 (Supplementary Table 3); Lango Allen 2010: A -0.063, P 1e-58 (GWAS Catalog); 0.07 SD per copy (Supplementary Table 3)
1000 Genomes Project phase 3, people with 0, 1 and 2 copies: All regions 686 / 826 / 992 · Africa 0 / 36 / 625 · The Americas 160 / 136 / 51 · East Asia 257 / 203 / 44 · Europe 178 / 236 / 89 · South Asia 91 / 215 / 183

See this card in the sample report

Limits

What it cannot tell you

A single marker, one of many hundreds that shape adult height.

Defining the role of common variation in the genomic and biological architecture of adult human height (Wood et al., 2014)

The same topic

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