The phosphatidylethanolamine N-methyltransferase gene V175M single nucleotide polymorphism confers the susceptibility to NASH in Japanese population

Aberrant Estrogen Regulation of PEMT Results in Choline Deficiency-associated Liver Dysfunction

“…Therefore, these women are dependent on dietary choline. This hypothesis is supported by existing data; Pemt disruption predisposes to hepatic steatosis in mice (15)(16)(17), and a functional polymorphism in PEMT (V175M) was significantly associated with nonalcoholic hepatic steatosis in populations in the United States and Japan (18,19). Indeed, we identified a single nucleotide polymorphism (SNP) in the promoter region of PEMT (rs12325817) that was asso-ciated with a greatly increased risk for developing organ dysfunction in premenopausal female carriers when fed a low choline diet (20).…”

Serum choline plasmalogens, particularly those with oleic acid in sn-2, are associated with proatherogenic state

“…Supplemental Material can be found at: ( 26 ). Interestingly, a polymorphism of the human PEMT gene is associated with diminished activity and may confer susceptibility to nonalcoholic fatty liver disease (NAFLD) ( 27,28 ). NAFLD shares common clinical manifestations with MetS, such as abdominal obesity, T2D, dyslipidemia, and insulin resistance ( 29 ).…”

The Kruppel-Like Factor 6 Genotype Is Associated With Fibrosis in Nonalcoholic Fatty Liver Disease

“…27 Why some individuals with these risk factors progress and others do not is unclear, but twin and ethnic studies suggest that genetic factors play a role. 5,6 To date, SNPs in a number of genes have been associated with NAFLD severity, including microsomal triglyceride transfer protein, manganese superoxide dismutase, 30 phosphatidylethanolamine N-methyltransferase, 31 and tumor necrosis factor α. 32 However, none of these studies were sufficiently large to exclude a type 1 error (number of patients, <110) and none have been replicated.…”