J Nutr Health.  2025 Feb;58(1):131-152. 10.4163/jnh.2025.58.1.131.

Scoping review of research trends in genetic factors related to metabolic syndrome in Koreans: using the data from Korean Genome and Epidemiology Study (KoGES)

• Kim M
• Kim S
• Shin D

• KMID: 2565766
• DOI: http://doi.org/10.4163/jnh.2025.58.1.131

Abstract

Purpose
Metabolic syndrome (MetS) is a condition in which multiple risk factors interact in a complex manner. Considerable attention has been directed towards the potential genetic contributions to its diverse mechanisms. Understanding these contributions is essential for reducing MetS and other chronic diseases and developing effective prevention strategies. Therefore, this study analyzed the research trends in academic papers exploring genetic factors related to MetS and its components in Koreans and attempted to identify areas requiring additional research.
Methods
The scoping review method was used to evaluate studies that utilized the secondary data sets comprising the Korean Genome and Epidemiology Study. Articles published over the past 15 years were identified using the Research Information Sharing Service, Korean Studies Information Service System, DBpia, PubMed, and ScienceDirect databases.
Results
Forty-seven published articles from 2010 to 2024 were included in the review. Research on the genetic factors linked to MetS has expanded since 2019, indicating significant advances in the field. The research included 18 studies on the polygenic risk score (PRS)/genetic risk score (GRS), 17 studies on single nucleotide polymorphisms (SNPs), six studies on two or more genes, four studies on DNA methylation, and two studies on copy number variations (CNVs). In PRS/GRS research, seven studies focused on the genes related to diseases. In SNP research, four studies examined the FTO gene. Studies on two or more genes included two studies, each on the genes associated with diabetes and high-density lipoprotein cholesterol. For DNA methylation, three studies focused on the TXNIP gene. Finally, in CNV research, one study was conducted on the LEPR gene and one on genes for hypertension.
Conclusion
The relatively low proportion of studies on DNA methylation and CNV presents limitations in understanding their associations with MetS. Expanded research utilizing diverse approaches and genetic variables is needed to overcome these limitations.

Keyword

scoping review; metabolic syndrome; genetic risk score; single nucleotide polymorphism; DNA copy number variations