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AssigneeRegeneron Pharmaceuticals, Inc.
InventorsNoura S. Abul-Husn, Omri Gottesman, Alexander Li, Xiping Cheng, Yurong Xin, Jesper Gromada, Frederick E. Dewey, Aris Baras, Alan Shuldiner
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Provided are compositions related to HSD17B13 variants, including nucleic acid molecules and polypeptides related to variants of HSD17B13, and cells comprising those nucleic acid molecules and polypeptides. Also provided are methods related to HSD17B13 variants. Such methods include methods for detecting the presence of the HSD17B13 rs72613567 variant in a biological sample comprising genomic DNA, for detecting the presence or levels of any one of variant HSD17B13 Transcripts C, D, E, F, G, and H, and particularly D, in a biological sample comprising mRNA or cDNA, or for detecting the presence or levels of any one of variant HSD17B13 protein Isoforms C, D, E, F, G, or H, and particularly D, in a biological sample comprising protein. Also provided are methods for determining a subject's susceptibility to developing a liver disease or of diagnosing a subject with liver disease.
A method of treating a subject who is not a carrier of the HSD17B13 rs72613567 variant and has a chronic liver disease, the method comprising introducing into the subject an antisense molecule that hybridizes to an HSD17B13 nucleic acid molecule and decreases expression of HSD17B13 in a liver cell in the subject.
A method of treating a subject who has at least one risk factor for progression to more clinically advanced stages of liver disease, the method comprising introducing into the subject an antisense molecule that hybridizes to an HSD17B13 nucleic acid molecule and decreases expression of HSD17B13 in a liver cell in the subject, wherein the at least one risk factor comprising the subject not being a carrier of a HSD17B13 rs72613567 variant, excessive alcohol use, obesity, high cholesterol, a high level of triglycerides in the subject's blood, polycystic ovary syndrome, sleep apnea, type 2 diabetes, underactive thyroid (hypothyroidism), underactive pituitary gland (hypopituitarism), and/or a metabolic syndrome including raised blood lipids.
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