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DNA Traits · Immune biology

Basophil count association

The number of basophils, a rare white blood cell, in the blood.

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Evidence · Replicated

What the research found

In the cited research, the A allele at rs4328821 was associated with higher basophil counts in the studied cohorts.

GG
Lower average
AG
Middle
AA
Higher average
Evidence
Genome-wide association with independent replication
Who was studied
European-ancestry discovery and independent replication cohorts
1000 Genomes Project

How common each genotype is

How common each genotype is in the 1000 Genomes Project, by region
RegionGGLower averageAGMiddleAAHigher average
All regions2,504 people5%29%66%
Africa661 people2%23%75%
The Americas347 people3%28%69%
East Asia504 people14%43%43%
Europe503 people<1%19%80%
South Asia489 people4%34%62%

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 BC95%57 of 60 copies read
First farmers6500 to 3000 BC94%867 of 919 copies read
Bronze Age3000 to 1200 BC90%728 of 810 copies read
Iron Age and Antiquity1200 BC to AD 60089%951 of 1,072 copies read
Middle AgesAD 600 to 150087%478 of 549 copies read
Today1000 Genomes90%903 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.
rs4328821

The marker

Gene or region
RPN1 region
Marker
rs4328821
Location
Chromosome 3 · GRCh37 128,316,435 · GRCh38 128,597,592
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
RPN1 region · rs4328821
Location
Chromosome 3 · GRCh37 128,316,435 · GRCh38 128,597,592
Studied allele
A
Published statistic
Joint beta +0.010 per A allele on square-root basophil count (SE 0.001), P 8.72e-13; discovery +0.010 (SE 0.002), P 2.58e-8; independent replication +0.010 (SE 0.002), P 8.40e-6 (Table 2) (Table 2, basophil count row; Methods (transformation))
1000 Genomes Project phase 3, people with 0, 1 and 2 copies
All regions 117 / 731 / 1656 · Africa 12 / 154 / 495 · The Americas 10 / 96 / 241 · East Asia 72 / 217 / 215 · Europe 3 / 97 / 403 · South Asia 20 / 167 / 302
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Limits

What it cannot tell you

This small association is with a laboratory blood-cell count within the normal range studied. It does not estimate your current count, grade immune strength or predict infection, allergy, autoimmune disease or blood cancer. Only the studied A/G allele pair is interpreted.

Multiple Loci Are Associated with White Blood Cell Phenotypes (Nalls et al., 2011)
The same topic

More in Immune biology

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