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DNA Traits · Heart & circulation

LDL cholesterol, LDLR marker

The blood level of LDL cholesterol.

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Evidence · Replicated

What the research found

In the cited research, the T allele at rs6511720 was associated with lower blood LDL cholesterol concentrations in the studied cohorts.

GG
Higher average
GT
Middle
TT
Lower average
Clear 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 people83%16%1%
Africa661 people73%24%3%
The Americas347 people82%16%1%
East Asia504 people98%2%Not seen
Europe503 people80%18%2%
South Asia489 people84%15%<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 BC1%1 of 102 copies read
First farmers6500 to 3000 BC11%111 of 976 copies read
Bronze Age3000 to 1200 BC12%105 of 882 copies read
Iron Age and Antiquity1200 BC to AD 60014%214 of 1,527 copies read
Middle AgesAD 600 to 150010%155 of 1,483 copies read
Today1000 Genomes11%111 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.
rs6511720

The marker

Gene or region
LDLR
Marker
rs6511720
Location
Chromosome 19 · GRCh37 11,202,306 · GRCh38 11,091,630
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
LDLR · rs6511720
Location
Chromosome 19 · GRCh37 11,202,306 · GRCh38 11,091,630
Studied allele
T
Published statistic
beta -0.26 SD per T (SE 0.04) in FHS; combined stage 1 + 2 P 2e-26, N 19,648 (Table 2; imputed, footnote c); 0.26 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 2078 / 393 / 33 · Africa 485 / 158 / 18 · The Americas 286 / 57 / 4 · East Asia 492 / 12 / 0 · Europe 402 / 91 / 10 · South Asia 413 / 75 / 1
See this card in the sample report
Limits

What it cannot tell you

Common LDLR markers like this one are separate from the rare LDLR mutations behind inherited very high cholesterol.

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

More in Heart & circulation

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