HSD17B13 and Chronic Liver Disease in Blacks and Hispanics

HSD17B13 and Chronic Liver Disease in Blacks and Hispanics

The established association between variant HSD17B13 and protection against chronic liver disease has been replicated. A newly discovered, probably damaging variant (with an allele frequency of 18.7% in blacks and 2.4% in Hispanics) is associated with protection against the disease.

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Bibliographische Detailangaben
Veröffentlicht in:The New England journal of medicine 2018-11, Vol.379 (19), p.1876-1877
Hauptverfasser: Kozlitina, Julia, Stender, Stefan, Hobbs, Helen H, Cohen, Jonathan C
Format: Artikel
Sprache:eng
Schlagworte:
17-Hydroxysteroid Dehydrogenases - genetics
Adult
African Americans
Child
Chronic Disease
Frameshift Mutation
Gene frequency
Genetic Predisposition to Disease
Hispanic Americans
Hispanic people
Humans
Liver - chemistry
Liver diseases
Liver Diseases - ethnology
Liver Diseases - genetics
Loss of Function Mutation
Triglycerides - analysis
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Beschreibung
Zusammenfassung:The established association between variant HSD17B13 and protection against chronic liver disease has been replicated. A newly discovered, probably damaging variant (with an allele frequency of 18.7% in blacks and 2.4% in Hispanics) is associated with protection against the disease.
ISSN:0028-4793
1533-4406
DOI:10.1056/NEJMc1804027