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Hydroxysteroid 17-beta dehydrogenase 13 (hsd17b13) variants and uses thereof

A variant and gene technology, applied in the field of genetic modification and polypeptide variants of hydroxysteroid 17-β dehydrogenase 13, can solve problems such as undescribed protective genetic variants for chronic liver disease

Pending Publication Date: 2019-09-03
REGENERON PHARM INC
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

To date, no protective genetic variants have been described for chronic liver disease

Method used

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  • Hydroxysteroid 17-beta dehydrogenase 13 (hsd17b13) variants and uses thereof
  • Hydroxysteroid 17-beta dehydrogenase 13 (hsd17b13) variants and uses thereof
  • Hydroxysteroid 17-beta dehydrogenase 13 (hsd17b13) variants and uses thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment approach 1

[0271] Embodiment 1. A nucleic acid molecule comprising or consisting of at least 15 adjacent nucleotides of the HSD17B13 gene, corresponding to positions 12665 ​​and 12666 of SEQ ID NO:1 A thymine is inserted between the nucleotides at the position.

Embodiment approach 2

[0272] Embodiment 2. The nucleic acid molecule of embodiment 1, wherein the adjacent nucleotides are at least about 90% of the corresponding sequence in SEQ ID NO:2 including the position corresponding to position 12666 of SEQ ID NO:2, At least about 95%, at least about 96%, at least about 97%, at least about 98%, or at least about 99% identical.

Embodiment approach 3

[0273] Embodiment 3. The nucleic acid molecule of Embodiment 1 or 2, wherein the HSD17B13 gene is a human HSD17B13 gene.

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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 presenceor 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.

Description

[0001] Reference to Sequence Listing [0002] This application includes a Sequence Listing filed electronically as a text file named 18923800802SEQ, which was created on January 18, 2018, and is 147 kilobytes in size. The Sequence Listing is incorporated herein by reference. [0003] field of invention [0004] The present disclosure relates generally to the field of genetics. More specifically, the disclosure relates to genetic alterations and polypeptide variants of hydroxysteroid 17-beta dehydrogenase 13 (HSD17B13) associated with, for example, liver disease. [0005] Background of the invention [0006] Various references, including patents, patent applications, registration numbers, technical articles, and scholarly articles, are cited throughout this specification. Each reference is hereby incorporated by reference in its entirety for all purposes. [0007] Chronic liver disease and cirrhosis are the leading causes of morbidity and mortality in the United States with ...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883
CPCC12Q1/6883C12Y101/01062C12N15/1137C12N2310/14C12N2310/531C12N2320/34C12Q2600/156C12N2310/20C12N9/0006C12Y101/01051A61P1/16A61K38/443A61K38/465C12N9/22C12N9/96A61K47/61A61K48/00C12N15/11C12N15/85C12N15/907C12N2800/24C12N2800/80C12Q1/32C12Q1/6827C12Q1/6876C12Q2600/118C12Q2600/158G01N2333/4704G01N33/5067A61K31/713G01N2800/085A61K48/0066C12N2320/30C12N15/113C12N5/067C12N15/102
Inventor 诺拉·S·阿布-胡森奥姆里·戈特斯曼亚历山大·李程希平辛玉蓉杰斯珀·格罗马达弗雷德里克·E·杜威阿里斯·巴拉斯艾伦·舒尔迪纳
Owner REGENERON PHARM INC
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