Evidence · Replicated

What the research found

In the cited research, the G allele at rs2282679 was associated with lower circulating 25-hydroxyvitamin D concentrations in the studied cohorts.

TT: Higher average
GT: Middle
GG: Lower average

Modest effect

What the study found

In the study, the average vitamin D in the blood, by genotype:

TTNo copy: 82.6 nmol/L
GTOne copy: 74.8 nmol/L
GGTwo copies: 64.6 nmol/L

Framingham Heart Study participants of European descent · 5,656 people · Table 2

Evidence: Replicated genome-wide association
Who was studied: European-ancestry discovery and replication cohorts

1000 Genomes Project

How common each genotype is

How common each genotype is in the 1000 Genomes Project, by region
Region	TTHigher average	GTMiddle	GGLower average
All regions2,504 people	64%	31%	5%
Africa661 people	90%	10%	<1%
The Americas347 people	61%	35%	3%
East Asia504 people	55%	39%	7%
Europe503 people	56%	39%	5%
South Asia489 people	50%	41%	9%

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	49%48 of 98 copies read
First farmers6500 to 3000 BC	28%256 of 900 copies read
Bronze Age3000 to 1200 BC	26%205 of 803 copies read
Iron Age and Antiquity1200 BC to AD 600	24%353 of 1,481 copies read
Middle AgesAD 600 to 1500	25%339 of 1,373 copies read
Today1000 Genomes	25%248 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. Ancient genomes from the Allen Ancient DNA Resource (AADR v66): 15,136 people.

rs2282679

The marker

Gene or region: GC
Marker: rs2282679
Location: Chromosome 4 · GRCh37 72,608,383 · GRCh38 71,742,666
Letters studied: G and T, 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: GC · rs2282679
Location: Chromosome 4 · GRCh37 72,608,383 · GRCh38 71,742,666
Studied allele: G
Published statistic: Overall P 1.9e-109 (discovery 4.57e-63, replication 2.88e-48), Table 1; OR 1.63 (95% CI 1.53 to 1.73) per G allele for 25-hydroxyvitamin D below 75 nmol/L and 1.49 (1.40 to 1.59) below 50 nmol/L, Table 3 (Table 2)
1000 Genomes Project phase 3, people with 0, 1 and 2 copies: All regions 1610 / 776 / 118 · Africa 596 / 64 / 1 · The Americas 213 / 123 / 11 · East Asia 275 / 195 / 34 · Europe 282 / 194 / 27 · South Asia 244 / 200 / 45

See this card in the sample report

Limits

What it cannot tell you

The measured trait was total circulating 25-hydroxyvitamin D. This marker is also associated with vitamin D-binding protein; it does not measure vitamin D production, free vitamin D or a response to supplementation. Only the studied G/T allele pair is interpreted. It cannot tell you a current vitamin D level, is not a test for deficiency and cannot choose a diet, supplement or dose.

Common genetic determinants of vitamin D insufficiency: a genome-wide association study (Wang et al., 2010)

The same topic

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