Nutrigenetic Impact of PEMT Gene Polymorphism Rs7946 On Choline Metabolism and Its Role in Personalised Nutrition
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Abstract: The PEMT (phosphatidylethanolamine N-methyltransferase) gene plays a critical role in the endogenous synthesis of phosphatidylcholine, an essential compound in lipid metabolism and liver health. The single nucleotide polymorphism (SNP) rs7946 (V175M) within the PEMT gene influences the enzymatic activity and structural stability, leading to altered choline metabolism. Individuals carrying Aallele exhibit reduced PEMT activity, predisposing themto non-alcoholic fatty liver disease (NAFLD), elevated homocysteine levels, and reproductive or cognitive risks under low choline diets. This impact is modulated by sex hormones, particularly oestrogen, rendering postmenopausal women more susceptible. This review summarises recent findings linking PEMT rs7946 variants with metabolic, hepatic, and psychological outcomes and explores gene diet interactions that informs genotype based nutritional recommendations. It also suggests tailored choline intake strategies based on genotype. We argue for the integration of PEMT screening in nutritional counselling, especially for vulnerable groups. Future nutrigenetics research is necessary to refine these guidelines and assess long-term impacts.
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