Evidence · Replicated

What the research found

In the cited research, the C allele at rs246185 was associated with later timing of the first menstrual period in studied women.

TT: Earlier
CT: Middle
CC: Later

Slight effect

What the study found

In the study, each copy went with age at the first menstrual period about 0.05 years higher on average.

Women of European ancestry in ReproGen consortium studies and 23andMe · 254,604 people · Table 1, rs246185 row (16p13.12, MKL2), age at menarche columns

Evidence: Genome-wide meta-analysis across independent cohorts
Who was studied: Women of European ancestry (ReproGen consortium and 23andMe)

The research behind this card was done only in women, so it is part of a report requested as female.

1000 Genomes Project

How common each genotype is

How common each genotype is in the 1000 Genomes Project, by region
Region	TTEarlier	CTMiddle	CCLater
All regions2,504 people	42%	42%	15%
Africa661 people	45%	44%	11%
The Americas347 people	61%	33%	6%
East Asia504 people	20%	47%	33%
Europe503 people	47%	41%	12%
South Asia489 people	45%	44%	11%

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	22%7 of 32 copies read
First farmers6500 to 3000 BC	29%72 of 252 copies read
Bronze Age3000 to 1200 BC	31%49 of 160 copies read
Iron Age and Antiquity1200 BC to AD 600	35%105 of 296 copies read
Middle AgesAD 600 to 1500	31%87 of 280 copies read
Today1000 Genomes	33%330 of 1,006 copies

Neanderthal and Denisovan genomes

Altai Neanderthal: Not read
Vindija Neanderthal: Not read
Chagyrskaya Neanderthal: No copies
Denisovan: Not read

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.

rs246185

The marker

Gene or region: MKL2 (MRTFB) region
Marker: rs246185
Location: Chromosome 16 · GRCh37 14,395,432 · GRCh38 14,301,575
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: MKL2 (MRTFB) region · rs246185
Location: Chromosome 16 · GRCh37 14,395,432 · GRCh38 14,301,575
Studied allele: C
Published statistic: beta +0.05 years per C allele (SE 0.005), P 4.0e-25, N 254,604 (Day 2015 Table 1, alleles C/T/0.33, C = increasing allele). Perry 2014 (GWAS Catalog): rs246185-C +0.04, P 7e-16. Elks 2010 Table 1 proxy rs1659127 (r2 0.86 CEU, 0.83 GBR): +2.4 weeks per A, P 4.0e-9 (Table 1, rs246185 row (16p13.12, MKL2), age at menarche columns)
1000 Genomes Project phase 3, people with 0, 1 and 2 copies: All regions 1062 / 1063 / 379 · Africa 295 / 293 / 73 · The Americas 212 / 113 / 22 · East Asia 100 / 237 / 167 · Europe 235 / 206 / 62 · South Asia 220 / 214 / 55

See this card in the sample report

Limits

What it cannot tell you

Studied in women of European descent who recalled their age at the first period. A single marker, one of more than a hundred linked to its timing.

Shared genetic aetiology of puberty timing between sexes and with health-related outcomes (Day et al., 2015)

The same topic

More in Reproductive biology

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