Evidence · Replicated

What the research found

In the cited research, the A allele at rs9398652 was associated with a higher resting heart rate 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 resting heart rate about 0.95 beats per minute higher on average.

European-ancestry adults from 15 cohorts (RRGEN consortium) · 37,050 people · Results, paragraph on the 6q22 locus (beats per minute conversion); Table 2

Evidence: Genome-wide association meta-analysis of 15 cohorts, replicated through a perfect proxy
Who was studied: European-ancestry adults

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	54%	32%	14%
Africa661 people	18%	48%	35%
The Americas347 people	82%	16%	2%
East Asia504 people	30%	50%	20%
Europe503 people	80%	19%	1%
South Asia489 people	84%	15%	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.

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	26%20 of 78 copies read
First farmers6500 to 3000 BC	18%103 of 587 copies read
Bronze Age3000 to 1200 BC	11%53 of 490 copies read
Iron Age and Antiquity1200 BC to AD 600	12%122 of 1,053 copies read
Middle AgesAD 600 to 1500	11%142 of 1,238 copies read
Today1000 Genomes	11%110 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. Ancient genomes from the Allen Ancient DNA Resource (AADR v66): 15,136 people.

rs9398652

The marker

Gene or region: Near GJA1
Marker: rs9398652
Location: Chromosome 6 · GRCh37 122,146,034 · GRCh38 121,824,888
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: Near GJA1 · rs9398652
Location: Chromosome 6 · GRCh37 122,146,034 · GRCh38 121,824,888
Studied allele: A
Published statistic: beta -12.6 ms RR interval per A (SE 1.56), P 7.7e-16 (meta-gc 3.8e-15), effective N 37,050, A frequency 0.10 (Table 2); 'equivalent to a 0.95 bpm higher heart rate based on the baseline mean heart rate of 66.8 bpm' (Results). Perfect proxy rs1015451 (r2 1.0 CEU) in den Hoed 2013: +0.713 bpm per C (SE 0.072) from cohorts excluding RRgen, stage 2 P 2.14e-17, stages 1 and 2 P 1.14e-32, N 155,303 (Table 1) (Results, paragraph on the 6q22 locus (beats per minute conversion); Table 2)
1000 Genomes Project phase 3, people with 0, 1 and 2 copies: All regions 1362 / 791 / 351 · Africa 116 / 316 / 229 · The Americas 286 / 54 / 7 · East Asia 151 / 252 / 101 · Europe 400 / 96 / 7 · South Asia 409 / 73 / 7

See this card in the sample report

Limits

What it cannot tell you

Heart rate was taken from one resting ECG, in adults without atrial fibrillation, heart block, a pacemaker, heart failure or heart-rate medicines.

Genome-wide association analysis identifies multiple loci related to resting heart rate (Eijgelsheim et al., 2010)

The same topic

More in Body & performance

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