However, rs7946(A) carriers are 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 [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.
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[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|
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