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DNA Traits · Immune biology

IL-6 receptor level

The blood level of the soluble receptor for interleukin-6, a protein used in immune signalling.

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Evidence · Replicated

What the research found

In the cited research, the T allele at rs4129267 was associated with higher circulating soluble interleukin-6 receptor concentrations in the studied cohorts.

CC
Lower average
CT
Middle
TT
Higher average
Strong effect

What the study found

In the study, the average blood level of this receptor, by genotype:

CCNo copy
69.9 ng/mL
CTOne copy
100.7 ng/mL
TTTwo copies
138.1 ng/mL
Italian adults from the InCHIANTI study · 1,195 people · Table 2 (IL-6sR row); N from Table S1 (sIL-6r row)
Evidence
Genome-wide protein association, replicated in later protein studies
Who was studied
Italian adults (InCHIANTI), confirmed in later European protein studies
1000 Genomes Project

How common each genotype is

How common each genotype is in the 1000 Genomes Project, by region
RegionCCLower averageCTMiddleTTHigher average
All regions2,504 people52%38%11%
Africa661 people83%16%<1%
The Americas347 people21%50%29%
East Asia504 people46%43%11%
Europe503 people41%45%13%
South Asia489 people48%43%8%

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 BC30%19 of 63 copies read
First farmers6500 to 3000 BC47%447 of 943 copies read
Bronze Age3000 to 1200 BC46%389 of 844 copies read
Iron Age and Antiquity1200 BC to AD 60037%404 of 1,093 copies read
Middle AgesAD 600 to 150041%237 of 583 copies read
Today1000 Genomes36%362 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. 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.
rs4129267

The marker

Gene or region
IL6R
Marker
rs4129267
Location
Chromosome 1 · GRCh37 154,426,264 · GRCh38 154,453,788
Letters studied
C 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
IL6R · rs4129267
Location
Chromosome 1 · GRCh37 154,426,264 · GRCh38 154,453,788
Studied allele
T
Published statistic
IL-6sR back-transformed means (95% CI) 69.92 (66.95 to 72.99), 100.65 (96.97 to 104.44), 138.13 (129.94 to 146.77) ng/mL for common homozygote, heterozygote, minor homozygote; MAF 0.37; P 1.82e-57; permutation P < 0.00001 (Table 2); 0.69 SD per allele (Results). Sun 2018: T +1.1, P reported as 0; Suhre 2017: +1.208, P 2e-265 (GWAS Catalog) (Table 2 (IL-6sR row); N from Table S1 (sIL-6r row))
1000 Genomes Project phase 3, people with 0, 1 and 2 copies
All regions 1298 / 941 / 265 · Africa 547 / 109 / 5 · The Americas 74 / 174 / 99 · East Asia 232 / 219 / 53 · Europe 208 / 228 / 67 · South Asia 237 / 211 / 41
See this card in the sample report
Limits

What it cannot tell you

The marker raises the soluble receptor by changing how the receptor is shed from cells; it does not measure interleukin-6 activity.

A genome-wide association study identifies protein quantitative trait loci (pQTLs) (Melzer et al., 2008)
The same topic

More in Immune biology

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