Evidence · Replicated

What the research found

In the cited research, the C allele at rs17782313 was associated with higher body mass index in the studied cohorts.

TT: Lower average
CT: Middle
CC: Higher average

Slight effect

What the study found

In the study, each copy went with body mass index about 0.22 kg/m² higher on average.

European-ancestry adults from population-based and disease-case studies · 77,228 people · Results text, paragraph beginning 'Combining data across all 77,228 genotyped adults' (Figure 2 plots the per-study effects)

Evidence: Genome-wide association with independent replication
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	TTLower average	CTMiddle	CCHigher average
All regions2,504 people	58%	36%	6%
Africa661 people	51%	42%	7%
The Americas347 people	76%	21%	3%
East Asia504 people	66%	31%	3%
Europe503 people	58%	36%	6%
South Asia489 people	46%	43%	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	12%6 of 49 copies read
First farmers6500 to 3000 BC	15%100 of 673 copies read
Bronze Age3000 to 1200 BC	23%131 of 571 copies read
Iron Age and Antiquity1200 BC to AD 600	24%177 of 727 copies read
Middle AgesAD 600 to 1500	29%150 of 518 copies read
Today1000 Genomes	24%241 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.

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.

rs17782313

The marker

Gene or region: Near MC4R
Marker: rs17782313
Location: Chromosome 18 · GRCh37 57,851,097 · GRCh38 60,183,864
Letters studied: C and T, with C 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 MC4R · rs17782313
Location: Chromosome 18 · GRCh37 57,851,097 · GRCh38 60,183,864
Studied allele: C
Published statistic: 0.049 Z-score units per C allele (95% CI 0.037 to 0.061), P 2.8e-15, about 0.22 kg/m2 (77,228 adults); first replication 0.049 (0.033 to 0.065), P 1.3e-9 (44,474); GIANT replication 0.035 (0.006 to 0.063), P 0.02 (15,878); children aged 7 to 11: 0.10 to 0.13 Z per C (Results text, paragraph beginning 'Combining data across all 77,228 genotyped adults' (Figure 2 plots the per-study effects))
1000 Genomes Project phase 3, people with 0, 1 and 2 copies: All regions 1453 / 900 / 151 · Africa 339 / 277 / 45 · The Americas 264 / 73 / 10 · East Asia 331 / 158 / 15 · Europe 292 / 181 / 30 · South Asia 227 / 211 / 51

See this card in the sample report

Limits

What it cannot tell you

Body mass index does not separate fat from muscle, and in adults each copy went with about a fifth of one BMI unit on average.

Common variants near MC4R are associated with fat mass, weight and risk of obesity (Loos et al., 2008)

The same topic

More in Body & performance

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