DNA Traits · Nutrition & metabolism

Bilirubin level, SLCO1B3 marker

The blood level of bilirubin, the yellow pigment left when red blood cells are broken down.

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Evidence · Replicated

What the research found

In the cited research, the C allele at rs2117032 was associated with higher total serum bilirubin concentrations in the studied cohorts.

TT: Lower average
CT: Middle
CC: Higher average

Modest effect

What the study found

In the study, each copy went with bilirubin in the blood about 0.04 mg/dL higher on average.

Sardinian volunteers (SardiNIA stage 2, independent of the scan) · 1,860 people · Table 1 (rs2117032, SardiNIA stage 2 row, mg/dl column)

Evidence: Genome-wide association with independent replication
Who was studied: Sardinian volunteers with 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	TTLower average	CTMiddle	CCHigher average
All regions2,504 people	30%	36%	35%
Africa661 people	<1%	11%	88%
The Americas347 people	35%	44%	21%
East Asia504 people	30%	47%	23%
Europe503 people	36%	50%	15%
South Asia489 people	58%	36%	5%

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	33%12 of 36 copies read
First farmers6500 to 3000 BC	44%164 of 370 copies read
Bronze Age3000 to 1200 BC	34%99 of 295 copies read
Iron Age and Antiquity1200 BC to AD 600	42%167 of 399 copies read
Middle AgesAD 600 to 1500	40%157 of 391 copies read
Today1000 Genomes	40%398 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.

rs2117032

The marker

Gene or region: SLCO1B3
Marker: rs2117032
Location: Chromosome 12 · GRCh37 21,074,122 · GRCh38 20,921,188
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: SLCO1B3 · rs2117032
Location: Chromosome 12 · GRCh37 21,074,122 · GRCh38 20,921,188
Studied allele: C
Published statistic: C (high-bilirubin allele): SardiNIA 0.129 SD (0.048 mg/dL), P 3.8e-8, N 4,300; stage 2 0.134 SD (0.040 mg/dL), P 5.0e-5, N 1,860; Old Order Amish (proxy rs10770763, r2 0.96) 0.170 SD (0.034 mg/dL), P 5.2e-4, N 838; overall P 2.91e-14, N 6,998 (Table 1) (Table 1 (rs2117032, SardiNIA stage 2 row, mg/dl column))
1000 Genomes Project phase 3, people with 0, 1 and 2 copies: All regions 743 / 891 / 870 · Africa 4 / 74 / 583 · The Americas 121 / 153 / 73 · East Asia 153 / 237 / 114 · Europe 179 / 250 / 74 · South Asia 286 / 177 / 26

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Limits

What it cannot tell you

A small effect beside the UGT1A1 marker, measured mainly in Sardinian volunteers.

Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia (Sanna et al., 2009)

The same topic

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