The association is established; acting on it is not advised
Not on most people's radar as a nutrient, and one variant explains a real, measured dose-response in how much of it a body actually needs — 13%, 43% or 80% risk of symptoms on a deficient diet, by genotype.
Choline is an essential nutrient — the body needs it and cannot always make enough on its own — but it gets far less attention than the vitamins and minerals sold beside it. Most of it either comes from food (eggs and meat are the richest sources) or is made in the liver via an enzyme called PEMT, whose activity is boosted by oestrogen.
In 2006, researchers fed 57 adults a diet deliberately low in choline until they developed organ dysfunction or 42 days passed. A variant in the promoter of PEMT — rs12325817, -744 G→C — stood out: 18 of 23 carriers of the C allele (78%) developed organ dysfunction, an odds ratio of 25 versus non-carriers (P=0.002).
A 2010 follow-up genotyped separately and found a clean dose-response specifically in 27 premenopausal women on the same protocol: 80%, 43% and 13% of women with two, one or zero copies of the C allele developed organ dysfunction. The same study found a second, non-genetic effect layered on top — postmenopausal women (lower oestrogen, so less PEMT activity regardless of genotype) needed more choline than premenopausal women, and oestrogen treatment cut their risk from 73% to 18%.
Choline has an official Adequate Intake set by nutrition authorities, and it is not adjusted for PEMT genotype — this remains a research finding, not something reflected in dosing guidance. About three-quarters of people carry at least one copy of the C allele, so this is not a rare variant explaining a rare problem; it is a common one that may partly explain why some people on an otherwise reasonable diet run short.
Choline is a nutrient the body needs for cell membranes, nerve signaling and liver function, found in eggs, meat and some plants. One variant explains a measured, dose-dependent difference in how much of it a body needs.
Not by itself — choline's official Adequate Intake is not adjusted for genotype. What the genetics shows is a real, measured difference in risk on a deficient diet, not a personal dosing instruction.
Adults, and specifically premenopausal women, fed a diet deliberately stripped of choline for up to 42 days — a controlled research setting, not ordinary eating.
Yes — postmenopausal women had higher risk regardless of genotype because lower oestrogen means less PEMT enzyme activity, and oestrogen treatment measurably lowered that risk in the same study.
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Choline. MyGeneLog™. https://www.mygenelog.com/supplements/choline
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