Physiological Effects of ANGPTL3 Variants in Humans

Oral fast tolerance test, lipoprotein kinetics and a glucose tolerance test to evaluate the role of ANGPTL3, on lipid metabolism and to explore the role of this protein on glucose metabolism.

Inclusion criteria

• Subjects aged 18 or older meeting at least one of the following criteria

• Carrying genetic variants in the gene encoding for ANGPTL3,
• Unaffected controls matched for age, race, gender,
• Willing to follow study procedures
• Able to provide inform consent

Exclusion criteria

• Any medical or psychological conditions that, in the opinion of the investigator, would compromise the subject's safety or successful participation in the study, or confound the study data
• Taking any medication that, in the opinion of the investigator, would compromise the subject's safety or successful participation in the study, or confound the study data
• Women that are pregnant or nursing
• History of liver disease or abnormal liver function tests (>2x upper limit of normal)
• History of kidney disease or chronic renal insufficiency (eGFR <60 mL/min/1.73 m2)
• Uncontrolled hypertension (>160/100 mmHg)
• Uncontrolled diabetes
• Anemia (hemoglobin <11.0 mg/dL) History of a non-skin malignancy within the previous 5 years Major surgery within the past 3 months
• History of any organ transplant
• History of alcohol or drug abuse
• Participation in clinical trials assessing the efficacy and safety of drugs affecting lipid metabolism within the past 6 weeks (or longer depending on the known half-life of the drug) that, in the opinion of the investigator, would compromise the subject's safety or successful participation in the study, or confound the study data
• Inability to comply to study procedures