US Patent:
20220267743, Aug 25, 2022
Inventors:
- Tarrytown NY, US
Omri Gottesman - Tarrytown NY, US
Alexander Li - Tarrytown NY, US
Xiping Cheng - Tarrytown NY, US
Yurong Xin - Tarrytown NY, US
Jesper Gromada - Tarrytown NY, US
Frederick E. Dewey - Tarrytown NY, US
Aris Baras - Tarrytown NY, US
Alan Shuldiner - Tarrytown NY, US
International Classification:
C12N 9/04
C12N 15/113
C12Q 1/6883
C12Q 1/32
C12Q 1/6827
C12Q 1/6876
A61K 47/61
A61P 1/16
A61K 38/44
A61K 38/46
C12N 9/22
C12N 9/96
C12N 15/11
C12N 15/85
C12N 15/90
Abstract:
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.