Evidence · Replicated

What the research found

In the cited research, the G allele at rs365990 was associated with a higher resting heart rate 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 resting RR interval (time between heartbeats) about 7.7 ms lower on average.

European-ancestry adults from 15 cohorts · 32,627 people · Table 2

Evidence: Genome-wide association across multiple cohorts at a previously reported locus
Who was studied: European-ancestry adults from 15 cohorts

1000 Genomes Project

How common each genotype is

How common each genotype is in the 1000 Genomes Project, by region
Region	AALower average	AGMiddle	GGHigher average
All regions2,504 people	42%	42%	16%
Africa661 people	13%	46%	41%
The Americas347 people	50%	42%	8%
East Asia504 people	70%	28%	2%
Europe503 people	41%	49%	11%
South Asia489 people	46%	44%	10%

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	18%9 of 49 copies read
First farmers6500 to 3000 BC	40%207 of 523 copies read
Bronze Age3000 to 1200 BC	38%156 of 408 copies read
Iron Age and Antiquity1200 BC to AD 600	42%227 of 535 copies read
Middle AgesAD 600 to 1500	39%162 of 414 copies read
Today1000 Genomes	35%351 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.

rs365990

The marker

Gene or region: MYH6
Marker: rs365990
Location: Chromosome 14 · GRCh37 23,861,811 · GRCh38 23,392,602
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: MYH6 · rs365990
Location: Chromosome 14 · GRCh37 23,861,811 · GRCh38 23,392,602
Studied allele: G
Published statistic: beta -7.7 ms RR interval per G allele (SE 1.02), P 5.4e-14 (after genomic control 2.1e-13), effective N 32,627; Table 2 (Table 2)
1000 Genomes Project phase 3, people with 0, 1 and 2 copies: All regions 1040 / 1051 / 413 · Africa 83 / 305 / 273 · The Americas 172 / 147 / 28 · East Asia 354 / 139 / 11 · Europe 205 / 245 / 53 · South Asia 226 / 215 / 48

See this card in the sample report

Limits

What it cannot tell you

The study measured ECG RR intervals at rest; a shorter interval corresponds to a higher heart rate. This marker cannot tell you your resting pulse or cardiovascular fitness, is not a test for a rhythm disorder, cannot calculate cardiovascular risk and does not guide training or treatment.

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

The same topic

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