Evidence · Replicated

What the research found

In the cited research, the T allele at rs2231142 was associated with higher serum uric acid concentrations in the studied cohorts.

GG: Lower average
GT: Middle
TT: Higher average

Slight effect

What the study found

In the study, each copy went with higher uric acid in the blood on average.

European-ancestry adults in fourteen population cohorts · 23,622 people · Table 1 (All individuals columns)

Evidence: Genome-wide meta-analysis across cohorts, replicated in later studies
Who was studied: European-ancestry adults in fourteen cohorts

1000 Genomes Project

How common each genotype is

How common each genotype is in the 1000 Genomes Project, by region
Region	GGLower average	GTMiddle	TTHigher average
All regions2,504 people	78%	20%	2%
Africa661 people	97%	3%	Not seen
The Americas347 people	73%	25%	2%
East Asia504 people	50%	42%	8%
Europe503 people	82%	17%	1%
South Asia489 people	81%	19%	<1%

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	11%10 of 90 copies read
First farmers6500 to 3000 BC	2%17 of 814 copies read
Bronze Age3000 to 1200 BC	3%25 of 719 copies read
Iron Age and Antiquity1200 BC to AD 600	7%84 of 1,257 copies read
Middle AgesAD 600 to 1500	10%121 of 1,244 copies read
Today1000 Genomes	9%95 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. Ancient genomes from the Allen Ancient DNA Resource (AADR v66): 15,136 people.

rs2231142

The marker

Gene or region: ABCG2
Marker: rs2231142
Location: Chromosome 4 · GRCh37 89,052,323 · GRCh38 88,131,171
Letters studied: G 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: ABCG2 · rs2231142
Location: Chromosome 4 · GRCh37 89,052,323 · GRCh38 88,131,171
Studied allele: T
Published statistic: beta 0.173 per T on Z-scores (95% CI 0.141 to 0.205), P 3.10e-26, N 23,622, effect allele frequency 10.77%, 0.57% explained variability (Table 1); men 0.221, women 0.138, difference P 0.013 (Table 2). Kottgen 2013: T +0.217 mg/dL, P 1e-134 (GWAS Catalog GCST001791); 0.17 SD per copy (Table 1 (All individuals columns))
1000 Genomes Project phase 3, people with 0, 1 and 2 copies: All regions 1960 / 490 / 54 · Africa 644 / 17 / 0 · The Americas 255 / 86 / 6 · East Asia 251 / 213 / 40 · Europe 414 / 83 / 6 · South Asia 396 / 91 / 2

See this card in the sample report

Limits

What it cannot tell you

The association was stronger in men than in women, and the urate-raising letter is uncommon in Europe and Africa.

Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations (Kolz et al., 2009)

The same topic

More in Nutrition & metabolism

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