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Phospholipids in large HDL

PEMT · rs8075019

Where this position leads

Condition: Cholesterol (LDL, HDL and Total)

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10⁻¹⁵, with 9 associations in the GWAS Catalog.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10⁻⁵⁰. 2: ClinVar from one lab (1 star), or p ≤ 10⁻²⁰. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10⁻⁸). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What the study found

Who was studied 434,646 British ancestry individuals, 8,796 British Central/South Asian individuals, 6,573 British African individuals.

The effect Each copy of the A allele shifted the measure 0.02 mmol/L lower (95% confidence interval 0.02-0.02); p = 3 × 10⁻¹⁴.

Where it sits Chromosome 17, band 17p11.2 — in an intron of PEMT.

How common each version is

AG

Korean KRGDB

A 12.8% · G 87.2%

Korean Korea4K

A 12.9% · G 87.1%

Korean Korea1K

A 13.5% · G 86.5%

Japanese ToMMo

A 10.4% · G 89.6%

Vietnamese

A 16.4% · G 83.6%

World gnomAD

A 19.9% · G 80.1%

World 1000 Genomes

A 21.1% · G 79.0%

World TOPMed

A 20.3% · G 79.7%

The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study.

What each result means

A/A Two copies of the version the research linked to Phospholipids in large HDL. That is the strongest link of the three results. A link in a study is not a diagnosis.

A/G One copy of the version the research linked to Phospholipids in large HDL. That is a smaller link than two copies.

G/G No copy of the version the research linked to Phospholipids in large HDL. This is the starting point the study compared everyone against.

Source

A genetic map of human metabolism across the allele frequency spectrum

Zoodsma M, Beuchel C, Yasmeen S, Kohleick L, Nepal A, Koprulu M, Kronenberg F, Mayr M, Williamson A, Pietzner M, Langenberg C

Nature genetics · 2025 · PMID 41044249 · open access

Questions about rs8075019

What is rs8075019?

rs8075019 is a single position in the genome, in or near the PEMT gene. Published research associates it with phospholipids in large hdl. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs8075019 linked to?

On MyGeneLog this position is linked to Cholesterol (LDL, HDL and Total). The research behind each link, and its sources, are set out on that condition page.

Does having rs8075019 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs8075019 come from?

GWAS Catalog, Nature genetics 2025, PMID:41044249. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Phospholipids in large HDL (rs8075019). MyGeneLog™. https://www.mygenelog.com/variants/rs8075019

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