Evidence · Replicated

What the research found

In the cited research, the A allele at rs17563 was associated with higher heel bone mineral density, estimated by ultrasound, in the studied cohorts.

GG: Lower average
AG: Middle
AA: Higher average

Slight effect

What the study found

In the study, each copy went with higher heel bone mineral density estimated by ultrasound on average.

UK Biobank adults of European ancestry · 426,824 people · Supplementary Table 2 (BOLT-LMM columns)

Evidence: Genome-wide association in UK Biobank, supported in independent DXA cohorts
Who was studied: UK Biobank adults of European ancestry

1000 Genomes Project

How common each genotype is

How common each genotype is in the 1000 Genomes Project, by region
Region	GGLower average	AGMiddle	AAHigher average
All regions2,504 people	12%	41%	47%
Africa661 people	4%	29%	67%
The Americas347 people	12%	48%	40%
East Asia504 people	8%	42%	50%
Europe503 people	31%	48%	21%
South Asia489 people	9%	42%	48%

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	32%17 of 53 copies read
First farmers6500 to 3000 BC	52%447 of 862 copies read
Bronze Age3000 to 1200 BC	51%389 of 759 copies read
Iron Age and Antiquity1200 BC to AD 600	50%550 of 1,109 copies read
Middle AgesAD 600 to 1500	48%245 of 508 copies read
Today1000 Genomes	45%453 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.

rs17563

The marker

Gene or region: BMP4
Marker: rs17563
Location: Chromosome 14 · GRCh37 54,417,522 · GRCh38 53,950,804
Letters studied: A and G, with A 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: BMP4 · rs17563
Location: Chromosome 14 · GRCh37 54,417,522 · GRCh38 53,950,804
Studied allele: A
Published statistic: Heel eBMD beta 0.0464 SD per A (SE 0.0019), P 4.3e-108 (non-infinitesimal P 9.5e-141), N 426,824, A frequency 0.425 (Supplementary Tables 2 and 3). GEFOS look-ups: total-body BMD 0.0251 (SE 0.0058), P 1.36e-5; femoral neck 0.0209 (SE 0.0075), P 0.0062; lumbar spine and forearm not significant (Supplementary Table 3); 0.05 SD per copy (Supplementary Table 2 (BOLT-LMM columns))
1000 Genomes Project phase 3, people with 0, 1 and 2 copies: All regions 307 / 1017 / 1180 · Africa 25 / 192 / 444 · The Americas 43 / 165 / 139 · East Asia 38 / 212 / 254 · Europe 156 / 241 / 106 · South Asia 45 / 207 / 237

See this card in the sample report

Limits

What it cannot tell you

The heel ultrasound measure estimates bone density; in independent DXA cohorts the association was smaller and was seen for total-body and hip bone, not the spine.

An atlas of genetic influences on osteoporosis in humans and mice (Morris et al., 2019)

The same topic

More in Body & performance

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