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(The FASEB Journal. 2005;19:1266-1271.)
© 2005 FASEB

Polymorphism of the PEMT gene and susceptibility to nonalcoholic fatty liver disease (NAFLD)

Jiannan Song*, Kerry Ann da Costa*, Leslie M. Fischer*, Martin Kohlmeier*, Lester Kwock{dagger}, Shuli Wang* and Steven H. Zeisel*,1

* Department of Nutrition, School of Public Health and School of Medicine,
{dagger} Department of Radiology, School of Medicine, University of North Carolina at Chapel Hill, North Carolina, USA

1Correspondence: School of Public Health, CB #7461, McGavran-Greenberg Building, The University of North Carolina, Chapel Hill, NC 27599-7461, USA. E-mail: steven_zeisel{at}unc.edu

Phosphatidylethanolamine N-methyltransferase (PEMT) catalyzes phosphatidylcholine synthesis. PEMT knockout mice have fatty livers, and it is possible that, in humans, nonalcoholic fatty liver disease (NAFLD) might be associated with PEMT gene polymorphisms. DNA samples from 59 humans without fatty liver and from 28 humans with NAFLD were genotyped for a single nucleotide polymorphism in exon 8 of PEMT, which leads to a V175M substitution. V175M is a loss of function mutation, as determined by transiently transfecting McArdle-RH7777 cells with constructs of wild-type PEMT open reading frame or the V175M mutant. Met/Met at residue 175 (loss of function SNP) occurred in 67.9% of the NAFLD subjects and in only 40.7% of control subjects (P<0.03). For the first time we report that a polymorphism of the human PEMT gene (V175M) is associated with diminished activity and may confer susceptibility to NAFLD.—Song, J., da Costa, K. A., Fischer, L. M., Kohlmeier, M., Kwock, L., Wang, S., Zeisel, S. H. Polymorphism of the PEMT gene and susceptibility to nonalcoholic fatty liver disease (NAFLD).


Key Words: choline • liver function • single nucleotide polymorphism (SNP) • nonalcoholic fatty liver disease pregnancy • NTD • transfection • site-directed mutagenesis




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