Purpose of review
The review highlights recent advances in our understanding of the interactions between genetic polymorphisms
in genes that metabolize choline
and the dietary requirements of choline
and how these interactions relate to human health and disease.
The importance of choline
as an essential nutrient has been well established, but our appreciation of the interaction between our underlying genetic architecture and dietary choline
requirements is only beginning. It has been shown in both human and animal studies that choline
deficiencies contribute to diseases such as nonalcoholic fatty liver disease and various neurodegenerative diseases. An adequate supply of dietary choline
is important for optimum development, highlighted by the increased maternal requirements during fetal development and in breast-fed infants. We discuss recent studies investigating variants in PEMT and MTHFR1 that are associated with a variety of birth defects. In addition to genetic interactions, we discuss several recent studies that uncover changes in fetal global methylation patterns in response to maternal dietary choline
intake that result in changes in gene expression in the offspring. In contrast to the developmental role of adequate choline
, there is now an appreciation of the role choline
has in cardiovascular disease through the gut microbiota-mediated metabolite trimethylamine N-oxide. This pathway highlights some of our understanding of how the microbiome affects nutrient processing and bioavailability. Finally, to better characterize the genetic architecture regulating choline
requirements, we discuss recent results focused on identifying polymorphisms
that regulate choline
and its derivative products.
Here we discuss recent studies that have advanced our understanding of how specific alleles in key choline
metabolism genes are related to dietary choline
requirements and human disease.