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DNA Traits · Heart & circulation

Systolic blood pressure association

Blood pressure while the heart beats, the upper of the two numbers.

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Evidence · Replicated

What the research found

In the cited research, the G allele at rs17249754 was associated with higher systolic blood pressure in the studied cohorts.

AA
Lower average
AG
Middle
GG
Higher average
Slight effect

What the study found

In the study, each copy went with systolic blood pressure about 0.93 mmHg higher on average.

European-ancestry adults (discovery 69,395; follow-up up to 133,661) · 96,416 people · Table 1 (ATP2B1 row, CA/NCA G/A, SBP beta column); N from Supplementary Information Appendix A, Table A.2 (All data, effective sample size)
Evidence
Genome-wide association with independent follow-up
Who was studied
European-ancestry discovery and independent follow-up cohorts
1000 Genomes Project

How common each genotype is

How common each genotype is in the 1000 Genomes Project, by region
RegionAALower averageAGMiddleGGHigher average
All regions2,504 people6%30%64%
Africa661 people2%23%75%
The Americas347 people2%18%80%
East Asia504 people11%40%48%
Europe503 people2%25%73%
South Asia489 people12%44%43%

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 BC88%52 of 59 copies read
First farmers6500 to 3000 BC91%799 of 878 copies read
Bronze Age3000 to 1200 BC86%685 of 800 copies read
Iron Age and Antiquity1200 BC to AD 60085%881 of 1,040 copies read
Middle AgesAD 600 to 150082%461 of 565 copies read
Today1000 Genomes86%861 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.
rs17249754

The marker

Gene or region
ATP2B1 region
Marker
rs17249754
Location
Chromosome 12 · GRCh37 90,060,586 · GRCh38 89,666,809
Letters studied
A and G, 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
ATP2B1 region · rs17249754
Location
Chromosome 12 · GRCh37 90,060,586 · GRCh38 89,666,809
Studied allele
G
Published statistic
beta +0.928 mmHg SBP per coded G allele, P 1.8e-18 (combined discovery and follow-up); Table 1 (Table 1 (ATP2B1 row, CA/NCA G/A, SBP beta column); N from Supplementary Information Appendix A, Table A.2 (All data, effective sample size))
1000 Genomes Project phase 3, people with 0, 1 and 2 copies
All regions 144 / 761 / 1599 · Africa 10 / 153 / 498 · The Americas 8 / 62 / 277 · East Asia 56 / 204 / 244 · Europe 10 / 125 / 368 · South Asia 60 / 217 / 212
See this card in the sample report
Limits

What it cannot tell you

The average per-allele difference in the research cohorts was less than 1 mmHg. This marker cannot tell you your current blood pressure, is not a test for high or low blood pressure, cannot calculate cardiovascular risk and does not guide treatment. Only the studied A/G allele pair is interpreted.

Genetic Variants in Novel Pathways Influence Blood Pressure and Cardiovascular Disease Risk (International Consortium for Blood Pressure Genome-Wide Association Studies, 2011)
The same topic

More in Heart & circulation

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