Next Generation Mendelian Genetics: Familial Combined Hyperlipidemia

The NHGRI Next Generation Mendelian Genetics project uses exome resequencing to identify variants in unsolved Mendelian diseases. The research study procedures included the collection of a fasting blood sample, 2 medical history/life style questionnaires and a measurement of subjects' waist circumference that were completed many years ago. Blood samples were analyzed for metabolic markers including cholesterol, HDL, triglycerides and APOE. Genetic tests targeted known and novel genes and polymorphisms associated with carotid artery disease. ]]>
Elevated metabolic lipoprotein values Family member with elevated metabolic lipoprotein values Personal or family history of cardiovascular disease ]]>
Subjects in this study are members of a few defined, multi-generational families with multiple members diagnosed with elevated lipoprotein levels. Probands presented at a University department of Metabolism, Endocrinology and Nutrition with very high values of blood fat and family histories of cardiovascular disease. Pedigrees determined multiple family members with similar histories. Approximately 250 probands and family members that were enrolled into the IRB approved study have been followed for more than 25 years. Males and females are roughly equal in numbers, and the vast majority is Caucasian and enrolled in the research as adults.]]>