Evidence · Replicated

What the research found

In the cited research, the G allele at rs2517388 was associated with later age at natural menopause in studied women.

TT: Earlier
GT: Middle
GG: Later

Slight effect

What the study found

In the study, each copy went with age at natural menopause about 0.23 years higher on average.

Women of European descent with natural menopause between 40 and 60, in 21 replication studies · Table 1, rs2517388 row (region 8), Replication line

Evidence: Genome-wide association with independent replication
Who was studied: Women of European descent

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	GTMiddle	GGLater
All regions2,504 people	44%	41%	15%
Africa661 people	47%	43%	10%
The Americas347 people	50%	43%	8%
East Asia504 people	12%	47%	41%
Europe503 people	63%	32%	5%
South Asia489 people	48%	41%	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	44%35 of 79 copies read
First farmers6500 to 3000 BC	23%142 of 626 copies read
Bronze Age3000 to 1200 BC	18%102 of 579 copies read
Iron Age and Antiquity1200 BC to AD 600	19%209 of 1,074 copies read
Middle AgesAD 600 to 1500	19%229 of 1,189 copies read
Today1000 Genomes	21%210 of 1,006 copies

Neanderthal and Denisovan genomes

Altai Neanderthal: No copies
Vindija Neanderthal: No copies
Chagyrskaya Neanderthal: No copies
Denisovan: No 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. Ancient genomes from the Allen Ancient DNA Resource (AADR v66): 15,136 people.

rs2517388

The marker

Gene or region: ASH2L / STAR region (8p11.23)
Marker: rs2517388
Location: Chromosome 8 · GRCh37 37,977,732 · GRCh38 38,120,214
Letters studied: G and T, 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: ASH2L / STAR region (8p11.23) · rs2517388
Location: Chromosome 8 · GRCh37 37,977,732 · GRCh38 38,120,214
Studied allele: G
Published statistic: Replication beta +0.234 years per G allele (SE 0.062), P 1.52e-4, G frequency 0.189; discovery +0.274 (SE 0.04), P 1.13e-11; combined +0.262 (SE 0.034), P 9.31e-15 (Stolk 2012 Table 1). Day 2015 Table 1 region 17 lead rs2720044 (r2 0.85 CEU, 0.96 GBR; its C allele travels with G here): -0.29 (SE 0.03) per A, P 7.3e-22 (Table 1, rs2517388 row (region 8), Replication line)
1000 Genomes Project phase 3, people with 0, 1 and 2 copies: All regions 1095 / 1036 / 373 · Africa 311 / 286 / 64 · The Americas 172 / 148 / 27 · East Asia 59 / 239 / 206 · Europe 317 / 162 / 24 · South Asia 236 / 201 / 52

See this card in the sample report

Limits

What it cannot tell you

Studied in women of European descent and concerns natural menopause, not menopause after surgery or treatment. A single marker, one of about 290 linked to the age at natural menopause.

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways (Stolk et al., 2012)

The same topic

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