How can this be? One explanation [doi: 10.1096/fj.06-1005ufm] concludes 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.
|Disease Association||Deletion of PEMT may be related to liver cancer.|
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[PMID 16816108] Common genetic polymorphisms affect the human requirement for the nutrient choline.
[PMID 17613168] Gene response elements, genetic polymorphisms and epigenetics influence the human dietary requirement for choline.
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[PMID 18789905] Genetic polymorphisms in methyl-group metabolism and epigenetics: lessons from humans and mouse models.
[PMID 19167960] Genetic variants in phosphatidylethanolamine N-methyltransferase and methylenetetrahydrofolate dehydrogenase influence biomarkers of choline metabolism when folate intake is restricted.
|qualified_impact||Insufficiently evaluated not reviewed|
[PMID 25240073] Maternal choline concentrations during pregnancy and choline-related genetic variants as risk factors for neural tube defects
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