Single Nucleotide Polymorphisms in PEMT and MTHFR Genes are Associated with Omega 3 and 6 Fatty Acid Levels in the Red Blood Cells of Children with Obesity.

Costela Lăcrimioara Șerban,Iulian Velea,Adela Chirita-Emandi,Mihai Dinu Niculescu,Diana-Andreea Tiugan,Corina Paul,Paul Tutac,Nicoleta Andreescu,Alexandra Mihailescu,Maria Puiu,Vlad Serafim,Cristian G. Zimbru

doi:10.3390/nu11112600

Abstract

Polyunsaturated fatty acids (PUFAs) play important roles in health and disease. PUFA levels are influenced by nutrition and genetic factors. The relationship between PUFA composition in red blood cells (RBCs) and genetic variations involved in PUFA metabolism has not been investigated in children with obesity. This study evaluated the association between several genetic variations and PUFA levels in RBCs in children with obesity. One hundred ninety-six children with obesity (101 females, 95 males) were evaluated using anthropometric measurements, dietary intakes, plasma and RBC PUFA quantification, blood biochemistry, and 55 single nucleotide polymorphisms within 14 genes. phosphatidylethanolamine N-methyltransferase (PEMT) rs1109859 and methylenetetrahydrofolate reductase gene (MTHFR) rs4846052 genotypes were associated with PUFA levels in RBCs. PUFA intake did not influence the RBC eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) levels. Higher RBC DHA and EPA levels were observed for PEMT rs1109859 GG and GA genotypes versus the AA genotype. Higher levels of RBC DHA, EPA, arachidonic acid (ARA), and linoleic acid (LA) and were observed for MTHFR rs4846052 TT genotype versus TC and CC genotypes. Genetic variations in PEMT rs1109859 and MTHFR rs4846052 were associated with different PUFA levels in RBC membranes and are estimators for PUFA species in RBCs. Further research is needed to establish whether these genotype-specific alterations are specific to overweight children.

Highlights

Within the research devoted to obesity, nutrition studies are at the forefront of the efforts aimed at combating this major epidemic
This study addresses the potential role of genetic variations in the modulation of polyunsaturated fatty acid (PUFA) levels in children with obesity
Considering the importance of the fatty acid composition in cell membranes, this study focused on the association between several single nucleotide polymorphisms (SNPs) and PUFA content in the red blood cells (RBCs) of children with obesity

Summary

Introduction

Within the research devoted to obesity, nutrition studies are at the forefront of the efforts aimed at combating this major epidemic. Considerable efforts are involved in finding how the quality, quantity, and types of fats are contributing to both the obesity onset and progression, or to its reduction. This study addresses the potential role of genetic variations in the modulation of polyunsaturated fatty acid (PUFA) levels in children with obesity. PUFA levels are influenced by both nutrition and genetic factors, separately [1,2], or by diet–gene interactions [3]. PUFAs are obtained from diet and synthesized endogenously from their precursor molecules (e.g., linoleic acid for omega-6, and alpha-linolenic acid for omega-3 species).

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