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DNA Traits · Heart & circulation

LDL cholesterol concentration association

The blood level of LDL cholesterol.

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Evidence · Replicated

What the research found

In the cited research, the T allele at rs12740374 was associated with lower blood LDL cholesterol concentrations in the studied cohorts.

GG
Higher average
GT
Middle
TT
Lower average
Modest effect

What the study found

In the study, each copy went with lower LDL cholesterol on average.

Framingham Heart Study participants (second and third generation, European ancestry) · Table 2 (FHS effect size column, footnotes a and b)
Evidence
Genome-wide association at an established lipid locus
Who was studied
European-ancestry participants across multiple research cohorts
1000 Genomes Project

How common each genotype is

How common each genotype is in the 1000 Genomes Project, by region
RegionGGHigher averageGTMiddleTTLower average
All regions2,504 people66%30%5%
Africa661 people55%41%4%
The Americas347 people64%31%5%
East Asia504 people92%8%<1%
Europe503 people63%31%6%
South Asia489 people57%34%9%

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 BC51%45 of 89 copies read
First farmers6500 to 3000 BC21%192 of 924 copies read
Bronze Age3000 to 1200 BC21%169 of 802 copies read
Iron Age and Antiquity1200 BC to AD 60021%292 of 1,382 copies read
Middle AgesAD 600 to 150020%239 of 1,205 copies read
Today1000 Genomes21%214 of 1,006 copies

Neanderthal and Denisovan genomes

Altai Neanderthal
2 copies
Vindija Neanderthal
2 copies
Chagyrskaya Neanderthal
2 copies
Denisovan
2 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.
rs12740374

The marker

Gene or region
SORT1 region
Marker
rs12740374
Location
Chromosome 1 · GRCh37 109,817,590 · GRCh38 109,274,968
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
SORT1 region · rs12740374
Location
Chromosome 1 · GRCh37 109,817,590 · GRCh38 109,274,968
Studied allele
T
Published statistic
beta -0.23 SD per T allele (SE 0.02) in FHS; combined stage 1 P 2e-42, N 19,648; Table 2; 0.23 SD per copy (Table 2 (FHS effect size column, footnotes a and b))
1000 Genomes Project phase 3, people with 0, 1 and 2 copies
All regions 1641 / 747 / 116 · Africa 361 / 273 / 27 · The Americas 222 / 108 / 17 · East Asia 462 / 41 / 1 · Europe 317 / 158 / 28 · South Asia 279 / 167 / 43
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Limits

What it cannot tell you

This is an association with a blood lipid measurement, not an estimate of your current lipid level. A single marker is not a test for high cholesterol, cannot predict heart attack or stroke risk and does not guide diet, medication or treatment. Only the studied G/T allele pair is interpreted.

Common variants at 30 loci contribute to polygenic dyslipidemia (Kathiresan et al., 2009)
The same topic

More in Heart & circulation

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