DNA Traits · Body & performance

Bone mineral density association

How dense the bone of the lower spine is.

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Evidence · Replicated

What the research found

In the cited research, the T allele at rs3736228 was associated with lower lumbar-spine bone mineral density in the studied cohorts.

CC: Higher average
CT: Middle
TT: Lower average

Modest effect

What the study found

In the study, each copy went with lower lumbar-spine bone mineral density on average.

European-ancestry adults, mostly women, in the replication cohorts (Rotterdam, TwinsUK replication, Chingford) · 6,463 people · Results, LRP5 paragraph (0.13 SD per T in the replication cohorts); Table 3 and its footnote; Abstract (6,463 people in the three replication cohorts, which Table 1 lists as 4,081, 1,692 and 690)

Evidence: Genome-wide association supported by a large multi-cohort analysis
Who was studied: European-ancestry cohorts, predominantly women with a smaller male subgroup

1000 Genomes Project

How common each genotype is

How common each genotype is in the 1000 Genomes Project, by region
Region	CCHigher average	CTMiddle	TTLower average
All regions2,504 people	79%	19%	2%
Africa661 people	96%	4%	<1%
The Americas347 people	73%	23%	4%
East Asia504 people	63%	32%	4%
Europe503 people	76%	22%	3%
South Asia489 people	80%	19%	1%

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	31%17 of 55 copies read
First farmers6500 to 3000 BC	21%173 of 832 copies read
Bronze Age3000 to 1200 BC	20%148 of 748 copies read
Iron Age and Antiquity1200 BC to AD 600	18%190 of 1,058 copies read
Middle AgesAD 600 to 1500	14%62 of 431 copies read
Today1000 Genomes	13%135 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.

rs3736228

The marker

Gene or region: LRP5
Marker: rs3736228
Location: Chromosome 11 · GRCh37 68,201,295 · GRCh38 68,433,827
Letters studied: C and T, with T 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: LRP5 · rs3736228
Location: Chromosome 11 · GRCh37 68,201,295 · GRCh38 68,433,827
Studied allele: T
Published statistic: -0.13 SD lumbar-spine BMD per T allele (replication cohorts), combined P 6.3e-12 (Table 3); femoral neck P 1.9e-4; 0.13 SD per copy (Results, LRP5 paragraph (0.13 SD per T in the replication cohorts); Table 3 and its footnote; Abstract (6,463 people in the three replication cohorts, which Table 1 lists as 4,081, 1,692 and 690))
1000 Genomes Project phase 3, people with 0, 1 and 2 copies: All regions 1979 / 469 / 56 · Africa 633 / 27 / 1 · The Americas 254 / 79 / 14 · East Asia 320 / 163 / 21 · Europe 381 / 109 / 13 · South Asia 391 / 91 / 7

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Limits

What it cannot tell you

The studied trait was bone mineral density measured by DXA, with the strongest association at the lumbar spine. This common marker cannot tell you your bone density, is not a test for osteoporosis, cannot calculate fracture risk and does not guide calcium intake, exercise or treatment.

Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study (Richards et al., 2008)

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