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DNA Traits · Sleep & rhythms

Daytime sleepiness association

How often people doze off during the day without meaning to.

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Evidence · Not yet replicated

What the research found

In the cited research, the T allele at rs1846644 was associated with less frequent unintended daytime dozing in the studied cohorts.

CC
More often
CT
Middle
TT
Less often
Slight effect

What the study found

In the study, each copy went with how often people doze off in the daytime without meaning to, on a four-step scale from never to all of the time about 0.01 points lower on average.

UK Biobank participants of European ancestry · 452,071 people · Supplementary Information, Supplementary Table 3 (BOLT-LMM, without BMI adjustment; alleles E/A T/C); Abstract and Methods (n 452,071; answers coded 1 to 4)
Evidence
Genome-wide association with nominal support in independent cohorts
Who was studied
European-ancestry UK Biobank participants; nominal support in Scandinavian cohorts using related sleepiness questions
1000 Genomes Project

How common each genotype is

How common each genotype is in the 1000 Genomes Project, by region
RegionCCMore oftenCTMiddleTTLess often
All regions2,504 people13%41%45%
Africa661 people4%25%72%
The Americas347 people14%46%40%
East Asia504 people6%39%55%
Europe503 people17%53%30%
South Asia489 people31%50%19%

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 BC93%38 of 41 copies read
First farmers6500 to 3000 BC61%307 of 504 copies read
Bronze Age3000 to 1200 BC56%236 of 425 copies read
Iron Age and Antiquity1200 BC to AD 60055%320 of 579 copies read
Middle AgesAD 600 to 150064%286 of 445 copies read
Today1000 Genomes56%566 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.
rs1846644

The marker

Gene or region
KSR2
Marker
rs1846644
Location
Chromosome 12 · GRCh37 117,938,380 · GRCh38 117,500,575
Letters studied
C and T, with T 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
KSR2 · rs1846644
Location
Chromosome 12 · GRCh37 117,938,380 · GRCh38 117,500,575
Studied allele
T
Published statistic
beta -0.011 per T (SE 0.001), P 2.5e-27, T frequency 0.59, n 452,071 (BOLT-LMM, Supplementary Table 3); the unrelated PLINK subset prints 0.011 (SE 0.001), P 2.52e-18, n 337,539 without naming the allele (Supplementary Data 1); HUNT -0.013 per T (SE 0.005), P 0.012, n 29,906; Health 2000 Epworth -0.123 per T (SE 0.067), P 0.069, n 4,546; Fisher P 0.007 (Supplementary Table 11) (Supplementary Information, Supplementary Table 3 (BOLT-LMM, without BMI adjustment; alleles E/A T/C); Abstract and Methods (n 452,071; answers coded 1 to 4))
1000 Genomes Project phase 3, people with 0, 1 and 2 copies
All regions 337 / 1031 / 1136 · Africa 25 / 163 / 473 · The Americas 47 / 161 / 139 · East Asia 28 / 197 / 279 · Europe 87 / 266 / 150 · South Asia 150 / 244 / 95
See this card in the sample report
Limits

What it cannot tell you

The association is with self-reported daytime sleepiness, not general fatigue, alertness measured today or a need for more sleep. Independent evidence for this individual marker was nominal; replication of the combined 42-marker score is not validation of a personal single-marker prediction. It is not a test for narcolepsy, sleep apnea or another sleep disorder. Only the studied C/T allele pair is interpreted.

Genome-wide association analysis of self-reported daytime sleepiness identifies 42 loci that suggest biological subtypes (Wang et al., 2019)
The same topic

More in Sleep & rhythms

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