Exome Sequencing,ANGPTL3Mutations, and Familial Combined Hypolipidemia
نویسندگان
چکیده
منابع مشابه
Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia.
We sequenced all protein-coding regions of the genome (the "exome") in two family members with combined hypolipidemia, marked by extremely low plasma levels of low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, and triglycerides. These two participants were compound heterozygotes for two distinct nonsense mutations in ANGPTL3 (encoding the angiopoietin-like 3...
متن کاملCharacterization of three kindreds with familial combined hypolipidemia caused by loss-of-function mutations of ANGPTL3.
BACKGROUND Angiopoietin-like protein 3 (ANGPTL3) affects lipid metabolism by inhibiting the activity of lipoprotein and endothelial lipases. Angptl3 knockout mice have marked hypolipidemia, and heterozygous carriers of ANGPLT3, loss-of-function mutations were found among individuals in the lowest quartile of plasma triglycerides in population studies. Recently, 4 related individuals with primar...
متن کاملNew technologies for delineating and characterizing the lipid exome: prospects for understanding familial combined hyperlipidemia.
This review summarizes the progress made in cutting through the biological and genetic complexity of the Gordian knot that is familial combined hyperlipidemia. We particularly focus on how the application of new genomic technologies, especially massively parallel sequencing and high-throughput genotyping platforms, promise to accelerate the gene discovery process in this common, highly atheroge...
متن کاملHypolipidemia and Sepsis: It is The Hypolipidemia Not The Statins
To The Editor: I read with great interest the correspondence written by Mathew and Daniel [1], who have the same concerns regarding the potential risks of hypolipidemia [2]. However, Mathew and Daniel referred to the recently published systemic review by Falagas and his colleagues [3], who analyzed twenty studies that examined the use of statins in patients with septicemia and other different b...
متن کاملExome Sequencing of Familial Bipolar Disorder.
IMPORTANCE Complex disorders, such as bipolar disorder (BD), likely result from the influence of both common and rare susceptibility alleles. While common variation has been widely studied, rare variant discovery has only recently become feasible with next-generation sequencing. OBJECTIVE To utilize a combined family-based and case-control approach to exome sequencing in BD using multiplex fa...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: New England Journal of Medicine
سال: 2010
ISSN: 0028-4793,1533-4406
DOI: 10.1056/nejmoa1002926