Identification of genetic variants related to metabolic syndrome by next-generation sequencing

• Published in: Diabetology and metabolic syndrome Vol. 14; no. 1; pp. 1 - 12
• Main Authors: Lee, Sanghoo, Kim, Seol-A, Hong, Jeonghoon, Kim, Yejin, Hong, Gayeon, Baik, SaeYun, Choi, Kyeonghwan, Lee, Mi-Kyeong, Lee, Kyoung-Ryul
• Format: Journal Article
• Language: English
• Published: London BioMed Central Ltd 23.08.2022; BioMed Central; BMC
• Subjects: ABCA1 protein; Analysis; ATP-binding protein; Blood cholesterol; Blood glucose; Blood sugar; Cardiovascular diseases; Cholesterol; Clinical features; Diabetes; Diabetes mellitus (non-insulin dependent); Dyslipidemia; Genetic diversity; Genetic factors; Genetic variants; Genomes; Glucose tolerance; Health risk assessment; High density lipoprotein; Hyperglycemia; Hypertension; Hypertriglyceridemia; Insulin; Insulin resistance; Intolerance; Low density lipoprotein receptors; Metabolic syndrome; Methylenetetrahydrofolate reductase; Next-generation sequencing; Obesity; Osteonectin; Risk factors; Type 2 diabetes; South Korea; United States > US
• ISSN: 1758-5996; 1758-5996
• DOI: 10.1186/s13098-022-00893-y

Background Metabolic syndrome (MetS) is a cluster of conditions associated with glucose intolerance, hypertension, abdominal obesity, dyslipidemia, and insulin resistance that increase the risk of cardiovascular diseases (CVD) and type 2 diabetes (T2D). Since MetS is known as a complex symptom with a high incidence of genetic factors, it is important to identify genetic variants for each clinical characteristic of MetS. Methods We performed targeted next-generation sequencing (NGS) to identify genetic variants related to obesity, blood glucose, triacylglycerol (TG), and high-density lipoprotein (HDL)-cholesterol level, and hypertension in 48 subjects with MetS and in 48 healthy subjects. Results NGS analysis revealed that 26 of 48 subjects (54.2%) with MetS had putative non-synonymous variants related to the clinical features of MetS. Of the subjects with MetS, 8 (16.7%) had variants in 4 genes (COL6A2, FTO, SPARC, and MTHFR) related to central obesity, 17 (35.4%) had variants in 6 genes (APOB, SLC2A2, LPA, ABCG5, ABCG8, and GCKR) related to hyperglycemia, 3 (6.3%) had variants in 4 genes (APOA1, APOC2, APOA4, and LMF1) related to hypertriglyceridemia, 8 (16.7%) had variants in 4 genes (ABCA1, CETP, SCARB1, and LDLR) related to low HDL-cholesterolemia, and 5 (10.4%) had variants in ADD1 related to hypertension. Conclusions Our findings may contribute to broadening the genetic spectrum of risk variants related to the development of MetS. Keywords: Metabolic syndrome, Clinical features, Genetic variants, Next-generation sequencing