Which genes are associated with hypertriglyceridemia (high triglyceride levels)?

Updated: Jul 23, 2021
  • Author: Mary Ellen T Sweeney, MD; Chief Editor: Romesh Khardori, MD, PhD, FACP  more...
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Known genetic susceptibility factor effects account for approximately 10-15% of the trait variances in blood lipid levels (LDL cholesterol, HDL cholesterol, triglycerides). [20] Genome-wide association studies (GWAS) have identified several loci associated with blood lipid traits, including hypertriglyceridemia. [21]

Hypertriglyceridemia is associated with several genes (in aggregate) including apoAV, GCKR, LPL, and APOB. [22] Patients with single nucleotide polymorphisms (SNPs) 40 kilobases (kb) from TRIB1 (a gene known to be strongly associated with dyslipidemia) have abnormal levels of triglycerides, as well as HDL cholesterol and LDL cholesterol. [23] In a large study of Japanese and Korean individuals, investigators reported that genetic variants of APOA5 (-1131T→C polymorphism [rs662799]) and BTN2A1 (C→T polymorphism [rs6929846]) synergistically affect the prevalence of dyslipidemia in East Asian populations and metabolic syndrome in Japanese individuals. [24]

Certain genetic variants can further predispose a patient with hypertriglyceridemia and certain environmental factors to consequences, such as CAD and MI. For example, the genetic variant R952QP of LRP8 (a gene at 1p31-32 that is associated with familial and premature CAD as well as high-level platelet activation) is associated with high triglyceride levels in patients who are have a history of being overweight, smoke, and have premature CAD/MI. [25]

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