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Genetic Testing for Hypertriglyceridemia in Academic Lipid Clinics: Implications for Precision Medicine—Brief Report by Matthew R. Deshotels; Trevor D. Hadley; Mendel Roth; Ali M. Agha; Vishnu Priya Pulipati; Anne K. Nugent; Salim S. Virani; Vijay Nambi; Patrick M. Moriarty; Michael H. Davidson; Christie M. Ballantyne is a Medicine article available to read on EtoBox.
What is Genetic Testing for Hypertriglyceridemia in Academic Lipid Clinics: Implications for Precision Medicine—Brief Report about?
Background: Severe hypertriglyceridemia is often caused by variants in genes of triglyceride metabolism. These variants include rare, heterozygous pathogenic variants (PVs), or multiple common, small-effect single nucleotide polymorphisms that can be quantified using a polygenic risk score (PRS). The role of genetic testing to examine PVs and PRS in predicting risk for pancreatitis and severity of hypertriglyceridemia is unknown. Methods: We examined the relationship of PVs and PRSs associated with hypertriglyceridemia with the highest recorded plasma triglyceride level and risk for acute pancreatitis in 363 patients from 3 academic lipid clinics who underwent genetic testing (GBinsight’s Dyslipidemia Comprehensive Panel). Categories of hypertriglyceridemia included: normal triglyceride (<200 mg/dL), moderate (200–499 mg/dL), severe (500–999 mg/dL), or very severe (≥1000 mg/dL). Results: PVs and high PRSs were identified in 37 (10%) and 59 (16%) individuals, respectively. Patients with both had increased risk for very severe hypertriglyceridemia compared with those with neither genetic risk factor. Risk for acute pancreatitis was also increased in individuals with both genetic risk
Who reads Genetic Testing for Hypertriglyceridemia in Academic Lipid Clinics: Implications for Precision Medicine—Brief Report?
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- Author
- Matthew R. Deshotels; Trevor D. Hadley; Mendel Roth; Ali M. Agha; Vishnu Priya Pulipati; Anne K. Nugent; Salim S. Virani; Vijay Nambi; Patrick M. Moriarty; Michael H. Davidson; Christie M. Ballantyne
- Published
- 2022
- Language
- EN
- Field
- Medicine (Health Sciences)