University of Texas System

Other

Helen H Hobbs

Jonathan C Cohen

Robert P Barnes

Bei Shan

Susan Laurene Acton

Hui Tian

Monty Krieger

Attilio Rigotti

Katherine Tallman Landschulz

Christine K Garcia

The invention relates generally to an allele on human chromosome 9 associated with increased risk for coronary heart disease and the use or detection of such an allele in determining whether a human has an increased risk for coronary heart disease. In one aspect, the invention relates to methods for detecting a predisposition or propensity or susceptibility for coronary heart disease in a human, comprising detecting the presence of an allele on human chromosome 9 that is associated with an increased risk for coronary heart disease in a human. Disclosed are methods and compositions for determining whether a person carries an allele associated with increased risk for coronary atherosclerosis by determining whether the person has an RA-CHR9 allele, such as by determining whether the person has an RA-CHR9 allele-associated single nucleotide polymorphism (SNP). The invention also relates to kits for detecting the presence of an allele on chromosome 9 associated with an increased risk for coronary heart disease.

Methods for detecting an increased risk for coronary heart disease

Disclosed are methods of identifying a genetic variant in a person determined to have or be predisposed having a fatty liver by determining whether the person has PNPLA3-I148M. Also disclosed are methods of identifying a genetic variant in a person by determining whether the person has PNPLA3-I148M; and prescribing to the person a treatment to reduce liver fat or associated inflammation.

Genetic diagnosis of hepatic steatosis

The present invention provides nucleic acids encoding a novel ABC family cholesterol transporter, ABCG8. The herein-disclosed sequences can be used for any of a number of purposes, including for the diagnosis and treatment of cholesterol-associated disorders, including sitosterolemia, and for the identification of molecules that associate with and/or modulate the activity of ABCG8.

ABCG8 vectors, host cells, and method of making

Low density lipoprotein receptor (LDRL) adaptin is a novel, key component of human cholesterol regulation, which provides a target for rational drug design and screening, therapeutic intervention, and diagnosis. Disclosed reagents include a variety of LDLR adaptin and LDLR adaptin PTB and CC domain compositions, including in vitro compositions comprising a natural human LDLR adaptin PTB domain and a ligand such as an NPXY (SEQ ID NO:7) peptide. These LDLR adaptin reagents are used, inter alia, in rational drug screening methods. The invention also provides polynucleotides encoding the subject LDLR adaptin polypeptides, including natural coding sequences, which may be used as probes or primers for detecting or amplifying LDLR adaptin genes and transcripts.

Drug screen for identifying an agent that modulates low density lipoprotein receptor adaptin-ligand binding

Methods for regulation of lipid and cholesterol uptake are described which are based on regulation of the expression or function of the SR-BI HDL receptor. The examples demonstrate that estrogen dramatically downregulates SR-BI under conditions of tremendous upregulation of the LDL-receptor. The examples also demonstrate the upregulation of SR-BI in rat adrenal membranes and other non-placental steroidogenic tissues from animals treated with estrogen, but not in other non-placental non-steroidogenic tissues, including lung, liver, and skin. Examples further demonstrate the uptake of fluorescently labeled HDL into the liver cells of animal, which does not occur when the animals are treated with estrogen.

Growing community of inventors

Dallas, TX, United States of America

Helen H Hobbs