Evidence · Replicated

What the research found

In the cited research, the A allele at rs7385804 was associated with higher serum iron concentrations in the studied cohorts.

CC: Lower average
AC: Middle
AA: Higher average

Slight effect

What the study found

In the study, each copy went with higher serum iron on average.

European-ancestry adults in the Genetics of Iron Status Consortium (discovery and replication cohorts) · Table 1 (D+R row)

Evidence: Genome-wide association in combined discovery and replication cohorts, replicated in a later study
Who was studied: European-ancestry adults from the Genetics of Iron Status Consortium

1000 Genomes Project

How common each genotype is

How common each genotype is in the 1000 Genomes Project, by region
Region	CCLower average	ACMiddle	AAHigher average
All regions2,504 people	11%	42%	48%
Africa661 people	11%	45%	45%
The Americas347 people	10%	38%	52%
East Asia504 people	5%	38%	58%
Europe503 people	16%	44%	40%
South Asia489 people	12%	41%	47%

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	45%43 of 96 copies read
First farmers6500 to 3000 BC	61%570 of 927 copies read
Bronze Age3000 to 1200 BC	54%480 of 890 copies read
Iron Age and Antiquity1200 BC to AD 600	61%910 of 1,498 copies read
Middle AgesAD 600 to 1500	58%770 of 1,317 copies read
Today1000 Genomes	62%626 of 1,006 copies

Neanderthal and Denisovan genomes

Altai Neanderthal: No copies
Vindija Neanderthal: Not read
Chagyrskaya Neanderthal: Not read
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.

rs7385804

The marker

Gene or region: TFR2
Marker: rs7385804
Location: Chromosome 7 · GRCh37 100,235,970 · GRCh38 100,638,347
Letters studied: A and C, 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: TFR2 · rs7385804
Location: Chromosome 7 · GRCh37 100,235,970 · GRCh38 100,638,347
Studied allele: A
Published statistic: Iron: discovery +0.055 SD per A (SE 0.010), P 7.19e-8; D+R +0.064 (0.007), P 1.36e-18, N 48,972; transferrin saturation D+R +0.054, P 6.07e-12; transferrin -0.003, P 0.728 (Table 1). Bell 2021: C -0.057 SD, P 9e-43 (GWAS Catalog GCST011367); 0.06 SD per copy (Table 1 (D+R row))
1000 Genomes Project phase 3, people with 0, 1 and 2 copies: All regions 264 / 1040 / 1200 · Africa 70 / 295 / 296 · The Americas 34 / 131 / 182 · East Asia 23 / 191 / 290 · Europe 79 / 222 / 202 · South Asia 58 / 201 / 230

See this card in the sample report

Limits

What it cannot tell you

The effect on serum iron is small, and the same marker also shifts red blood cell measures.

Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis (Benyamin et al., 2014)

The same topic

More in Nutrition & metabolism

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