DNA Traits · Heart & circulation
Red blood cell size
The average size of red blood cells.
What the research found
In the cited research, the A allele at rs9402686 was associated with larger mean red blood cell volume in the studied cohorts.
- GG
- Lower average
- AG
- Middle
- AA
- Higher average
What the study found
In the study, each copy went with average red blood cell volume about 0.78 fL higher on average.
- Evidence
- Genome-wide association with independent replication
- Who was studied
- European population cohorts (HaemGen consortium)
How common each genotype is
| Region | GGLower average | AGMiddle | AAHigher average |
|---|---|---|---|
| All regions2,504 people | 71% | 26% | 4% |
| Africa661 people | 91% | 9% | <1% |
| The Americas347 people | 67% | 30% | 3% |
| East Asia504 people | 55% | 37% | 8% |
| Europe503 people | 53% | 40% | 7% |
| 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.
Through time
How often the studied letter was read in ancient people, era by era, in the region chosen.
| Before farmingbefore 6500 BC | 22%11 of 49 copies read |
|---|---|
| First farmers6500 to 3000 BC | 22%144 of 667 copies read |
| Bronze Age3000 to 1200 BC | 18%90 of 513 copies read |
| Iron Age and Antiquity1200 BC to AD 600 | 22%161 of 748 copies read |
| Middle AgesAD 600 to 1500 | 27%138 of 519 copies read |
| Today1000 Genomes | 27%275 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.
The marker
- Gene or region
- HBS1L-MYB region
- Marker
- rs9402686
- Location
- Chromosome 6 · GRCh37 135,427,817 · GRCh38 135,106,679
- 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
- HBS1L-MYB region · rs9402686
- Location
- Chromosome 6 · GRCh37 135,427,817 · GRCh38 135,106,679
- Studied allele
- A
- Published statistic
- MCV per A (increaser): discovery 0.909 fL (SE 0.109), P 9.1e-17; replication 0.777 (0.072), P 5.9e-27, 1.16% variance; combined 0.818 (0.060), P 7.4e-42, N 13,943 (Table 1). Read 2019: A +0.647 fL, P 5e-10 (GWAS Catalog GCST008166) (Table 1 (MCV rows, replication columns))
- 1000 Genomes Project phase 3, people with 0, 1 and 2 copies
- All regions 1766 / 645 / 93 · Africa 600 / 60 / 1 · The Americas 232 / 105 / 10 · East Asia 277 / 187 / 40 · Europe 265 / 201 / 37 · South Asia 392 / 92 / 5
What it cannot tell you
Average red cell size also depends on iron, vitamin B12 and folate, which this marker does not reflect.
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium (Soranzo et al., 2009)More in Heart & circulation
- LDL cholesterol concentration association
- HDL cholesterol concentration association
- Triglyceride concentration association
- Systolic blood pressure association
- Diastolic blood pressure association
- Heart conduction timing association
- LDL cholesterol, LDLR marker
- HDL cholesterol, LIPG marker
- Triglycerides, LPL marker
- Platelet count
- Platelet size
- Fibrinogen level
See your own two letters.
Upload the raw DNA file you already have. Your report reads this marker and every other card studied for you, each with its evidence and its limits.