DNA Traits · Skin & sun

Mole count association

How many moles are on the skin.

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Evidence · Replicated

What the research found

In the cited research, the A allele at rs4636294 was associated with higher counts of melanocytic nevi (moles) in the studied cohorts.

GG: Fewer moles
AG: Middle
AA: More moles

Modest effect

Evidence: Genome-wide association with independent replication
Who was studied: European-ancestry adult female TwinsUK participants and adolescent participants in the Brisbane Twin Nevus Study

1000 Genomes Project

How common each genotype is

How common each genotype is in the 1000 Genomes Project, by region
Region	GGFewer moles	AGMiddle	AAMore moles
All regions2,504 people	41%	39%	20%
Africa661 people	67%	30%	3%
The Americas347 people	41%	44%	16%
East Asia504 people	49%	38%	13%
Europe503 people	25%	49%	26%
South Asia489 people	15%	40%	45%

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	39%17 of 44 copies read
First farmers6500 to 3000 BC	58%351 of 601 copies read
Bronze Age3000 to 1200 BC	60%274 of 460 copies read
Iron Age and Antiquity1200 BC to AD 600	55%381 of 696 copies read
Middle AgesAD 600 to 1500	55%255 of 465 copies read
Today1000 Genomes	50%508 of 1,006 copies

Neanderthal and Denisovan genomes

Altai Neanderthal: 2 copies
Vindija Neanderthal: 2 copies
Chagyrskaya Neanderthal: 2 copies
Denisovan: 2 copies

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.

rs4636294

The marker

Gene or region: MTAP region
Marker: rs4636294
Location: Chromosome 9 · GRCh37 21,747,803 · GRCh38 21,747,804
Letters studied: A and G, 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: MTAP region · rs4636294
Location: Chromosome 9 · GRCh37 21,747,803 · GRCh38 21,747,804
Studied allele: A
Published statistic: beta 0.197 (SE 0.037) per A allele on log nevus count, Brisbane replication P 6.6e-11 (n 4,107); TwinsUK discovery 0.188 (SE 0.042), P 9.8e-6 (n 1,524 adult female twins); combined P 3.4e-15 (Table 1) (Table 1)
1000 Genomes Project phase 3, people with 0, 1 and 2 copies: All regions 1027 / 984 / 493 · Africa 442 / 196 / 23 · The Americas 141 / 151 / 55 · East Asia 247 / 194 / 63 · Europe 125 / 248 / 130 · South Asia 72 / 195 / 222

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Limits

What it cannot tell you

The study counted melanocytic nevi at least 2 mm in diameter. This marker does not estimate your current mole count, classify a skin lesion or calculate melanoma risk. Age, sun exposure and other genes influence mole development. Only the studied A/G allele pair is interpreted.

Loci at 9p21 and 22q13 harbour alleles for development of cutaneous nevi and melanoma (Falchi et al., 2009)

The same topic

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