Genetics Meets Therapy? Exome-wide Association Study Reveals a Loss-of-Function Variant in 17-Beta-Hydroxysteroid Dehydrogenase 13 That Protects Patients From Liver Damage and Nonalcoholic Fatty Liver Disease Progression

Silvia Sookoian^{1

2}, Marco Arrese³, Carlos J Pirola^{1

4}

Affiliations

¹ Institute of Medical Research A. Lanari, University of Buenos Aires, Ciudad Autonoma de Buenos Aires, Argentina.
² National Scientific and Technical Research Council (CONICET), University of Buenos Aires, Department of Clinical and Molecular Hepatology, Institute of Medical Research (IDIM), Ciudad Autónoma de Buenos Aires, Argentina.
³ Departamento de Gastroenterología, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
⁴ National Scientific and Technical Research Council (CONICET), University of Buenos Aires, Department of Molecular Genetics and Biology of Complex Diseases, Institute of Medical Research (IDIM), Ciudad Autonoma de Buenos Aires, Argentina.

Comment

Silvia Sookoian et al. Hepatology. 2019 Feb.

. 2019 Feb;69(2):907-910.

doi: 10.1002/hep.30209. Epub 2018 Dec 28.

Silvia Sookoian^{1

2}, Marco Arrese³, Carlos J Pirola^{1

4}

¹ Institute of Medical Research A. Lanari, University of Buenos Aires, Ciudad Autonoma de Buenos Aires, Argentina.
² National Scientific and Technical Research Council (CONICET), University of Buenos Aires, Department of Clinical and Molecular Hepatology, Institute of Medical Research (IDIM), Ciudad Autónoma de Buenos Aires, Argentina.
³ Departamento de Gastroenterología, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
⁴ National Scientific and Technical Research Council (CONICET), University of Buenos Aires, Department of Molecular Genetics and Biology of Complex Diseases, Institute of Medical Research (IDIM), Ciudad Autonoma de Buenos Aires, Argentina.

No abstract available

Comment on

A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease.
Abul-Husn NS, Cheng X, Li AH, Xin Y, Schurmann C, Stevis P, Liu Y, Kozlitina J, Stender S, Wood GC, Stepanchick AN, Still MD, McCarthy S, O'Dushlaine C, Packer JS, Balasubramanian S, Gosalia N, Esopi D, Kim SY, Mukherjee S, Lopez AE, Fuller ED, Penn J, Chu X, Luo JZ, Mirshahi UL, Carey DJ, Still CD, Feldman MD, Small A, Damrauer SM, Rader DJ, Zambrowicz B, Olson W, Murphy AJ, Borecki IB, Shuldiner AR, Reid JG, Overton JD, Yancopoulos GD, Hobbs HH, Cohen JC, Gottesman O, Teslovich TM, Baras A, Mirshahi T, Gromada J, Dewey FE. Abul-Husn NS, et al. N Engl J Med. 2018 Mar 22;378(12):1096-1106. doi: 10.1056/NEJMoa1712191. N Engl J Med. 2018. PMID: 29562163 Free PMC article.