Common Genetic Variants in the Bile Acid Synthesis Enzyme CYP7A1 Are Associated With Severe Primary Bile Acid Diarrhea

Gastroenterology. 2022 Aug;163(2):517-519.e2. doi: 10.1053/j.gastro.2022.05.005. Epub 2022 May 5.

Authors

Sara Balesaria¹, Sanjeev S Pattni¹, Ian M Johnston¹, Jonathan D Nolan¹, Richard N Appleby¹, Julian R F Walters²

Affiliations

¹ Department of Gastroenterology, Imperial College Healthcare NHS Trust, Division of Digestive Diseases, Imperial College London, Hammersmith Hospital, London, United Kingdom.
² Department of Gastroenterology, Imperial College Healthcare NHS Trust, Division of Digestive Diseases, Imperial College London, Hammersmith Hospital, London, United Kingdom. Electronic address: julian.walters@imperial.ac.uk.

PMID: 35526572
DOI: 10.1053/j.gastro.2022.05.005

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Bile Acids and Salts*
Cholesterol 7-alpha-Hydroxylase* / metabolism
Diarrhea / genetics
Humans
Lipogenesis

Substances

Bile Acids and Salts
CYP7A1 protein, human
Cholesterol 7-alpha-Hydroxylase