Evidence · Replicated

What the research found

In the cited research, the A allele at rs4704397 was associated with higher circulating thyroid-stimulating hormone (TSH) concentrations in the studied cohorts.

GG: Lower average
AG: Middle
AA: Higher average

Modest effect

What the study found

In the study, each copy went with TSH in the blood about 0.13 µIU/mL higher on average.

Sardinian adults (SardiNIA) · 4,300 people · Abstract; Table 3 for the genotype medians

Evidence: Genome-wide association with independent replication
Who was studied: Sardinian discovery cohort with Italian and Old Order Amish replication

1000 Genomes Project

How common each genotype is

How common each genotype is in the 1000 Genomes Project, by region
Region	GGLower average	AGMiddle	AAHigher average
All regions2,504 people	13%	39%	48%
Africa661 people	2%	23%	76%
The Americas347 people	17%	47%	36%
East Asia504 people	3%	29%	68%
Europe503 people	34%	50%	15%
South Asia489 people	14%	52%	34%

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	28%16 of 57 copies read
First farmers6500 to 3000 BC	39%337 of 868 copies read
Bronze Age3000 to 1200 BC	32%264 of 826 copies read
Iron Age and Antiquity1200 BC to AD 600	41%422 of 1,019 copies read
Middle AgesAD 600 to 1500	42%252 of 596 copies read
Today1000 Genomes	40%407 of 1,006 copies

Neanderthal and Denisovan genomes

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

Neanderthals and Denisovans carried this letter too: it is the older of the two.

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.

rs4704397

The marker

Gene or region: PDE8B
Marker: rs4704397
Location: Chromosome 5 · GRCh37 76,518,442 · GRCh38 77,222,617
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: PDE8B · rs4704397
Location: Chromosome 5 · GRCh37 76,518,442 · GRCh38 77,222,617
Studied allele: A
Published statistic: SardiNIA: effect 0.21 SD (Table 1) or 0.25 SD (Table 3) per A, P 1.3e-11, H2 2.32%; genotype medians (IQR) 1.60 (1.50), 1.38 (1.21), 1.20 (1.14) microIU/mL for A/A, A/G, G/G. Replication: SardiNIA stage 2 (proxy rs6885099, r2 0.98) 0.13 SD, P 1.1e-4; InCHIANTI 0.12, P 0.0021; Old Order Amish 0.12, P 7.0e-5; stage 2 meta P 2.0e-10, N 4,158; overall P 1.9e-20, N 8,458 (Table 3). +0.13 microIU/mL per A (Abstract) (Abstract; Table 3 for the genotype medians)
1000 Genomes Project phase 3, people with 0, 1 and 2 copies: All regions 326 / 966 / 1212 · Africa 10 / 149 / 502 · The Americas 59 / 164 / 124 · East Asia 15 / 147 / 342 · Europe 173 / 253 / 77 · South Asia 69 / 253 / 167

See this card in the sample report

Limits

What it cannot tell you

TSH was measured once per volunteer, and the replication effects were about half the size seen in the first cohort.

Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function (Arnaud-Lopez et al., 2008)

The same topic

More in Nutrition & metabolism

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