Evidence · Replicated

What the research found

In the cited research, the A allele at rs10741657 was associated with higher circulating 25-hydroxyvitamin D concentrations in the studied cohorts.

GG: Lower average
AG: Middle
AA: Higher average

Slight effect

What the study found

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

GGNo copy: 75.4 nmol/L
AGOne copy: 78.6 nmol/L
AATwo copies: 81.6 nmol/L

Framingham Heart Study participants of European descent · 5,656 people · Table 2 (Framingham Heart Study column, CYP2R1 rows)

Evidence: Genome-wide association with independent replication
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	GGLower average	AGMiddle	AAHigher average
All regions2,504 people	48%	42%	10%
Africa661 people	60%	36%	4%
The Americas347 people	51%	42%	7%
East Asia504 people	46%	44%	10%
Europe503 people	39%	46%	15%
South Asia489 people	42%	44%	14%

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	41%23 of 56 copies read
First farmers6500 to 3000 BC	24%189 of 798 copies read
Bronze Age3000 to 1200 BC	37%245 of 671 copies read
Iron Age and Antiquity1200 BC to AD 600	35%311 of 878 copies read
Middle AgesAD 600 to 1500	37%191 of 512 copies read
Today1000 Genomes	38%383 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.

rs10741657

The marker

Gene or region: CYP2R1
Marker: rs10741657
Location: Chromosome 11 · GRCh37 14,914,878 · GRCh38 14,893,332
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: CYP2R1 · rs10741657
Location: Chromosome 11 · GRCh37 14,914,878 · GRCh38 14,893,332
Studied allele: A
Published statistic: Means (SE) 75.4 (0.87), 78.6 (0.76), 81.6 (1.26) nmol/L for major homozygotes, heterozygotes, minor homozygotes (Framingham); 1958 Birth Cohort 56.8, 60.2, 61.1 (Table 2). Overall P 3.27e-20 (discovery 3.91e-8, replication 2.09e-14), MAF 0.40 (Table 1). OR 1.21 for <75 nmol/L, P 9.4e-11; OR 1.06 for <50 nmol/L, P 0.06 (Table 3). Jiang 2018: A/G, frequency 0.4, beta 0.031 on ln 25(OH)D per A, P 2.05e-46, N 79,366 (Table 1) (Table 2 (Framingham Heart Study column, CYP2R1 rows))
1000 Genomes Project phase 3, people with 0, 1 and 2 copies: All regions 1207 / 1053 / 244 · Africa 397 / 239 / 25 · The Americas 176 / 145 / 26 · East Asia 231 / 224 / 49 · Europe 197 / 229 / 77 · South Asia 206 / 216 / 67

See this card in the sample report

Limits

What it cannot tell you

The measured trait was total 25-hydroxyvitamin D, which season and sun exposure move far more than this marker does.

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

The same topic

More in Nutrition & metabolism

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