rs7946, a SNP in the phosphatidylethanolamine N-methyltransferase PEMT gene and

also known as +5465G-A, leads to a V175M (valine to methionine at amino acid

position 175) substitution in the PEMT protein, and is a loss of function mutation.
Caucasians with nonalcoholic fatty liver are more likely to carry the rs7946(T),
with the effect being most pronounced for rs7946(T;T) genotypes. [PMID 16051693OA-
icon.png]

However, rs7946(T) carriers are in general not more likely to have fatty liver,
based on a study of many more patients, including ones of Hispanic and African-
American descent. [PMID 17012264]

How can this be? One explanation (10.1096/fj.06-1005ufm) suggests the following:

Caucasians have a different distribution of this SNP than do Hispanics and

African Americans;
Having this SNP may be necessary, but is not sufficient, to cause fatty liver,
as many individuals with the SNP have normal liver fat;
Probably this SNP does slow the export of fat from liver, but only rs7946
carrying individuals who also take in too many calories too quickly (i.e. overeat)
will wind up with fatty livers.

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Choline Metabolism in Young Women Consuming Choline Intakes Meeting Current
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in a Chinese Population

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requirement for the nutrient choline.

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epigenetics influence the human dietary requirement for choline.

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population-based study.

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epigenetics: lessons from humans and mouse models.

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methyltransferase and methylenetetrahydrofolate dehydrogenase influence biomarkers
of choline metabolism when folate intake is restricted.

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choline-related genetic variants as risk factors for neural tube defects

[PMID 27488260] Dietary choline and betaine intake, choline-metabolising genetic

polymorphisms and breast cancer risk: a case-control study in China.