Full exome sequencing of 11 families with Hidradenitis suppurativa.

Peter Theut Riis I C LoftS YazdanyarRune Kjaersgaard Andersen Ole Birger Vesterager Pedersen Hans Christian Ring Roland Martin Huber M Sultan Christian Loesche Ditte Marie Lindhardt Saunte Gregor Borut Ernst Jemec

Published in: Journal of the European Academy of Dermatology and Venereology : JEADV (2021)

We did not find causative mutation for each family in this study, supporting the theory that HS is rarely caused by single-gene mutations. We suggest that future genetic studies should be focused on genome-wide association with thousands of cases, as this technique is better suited for suspected polygenic diseases.

Keyphrases

genome wide association
hidradenitis suppurativa
copy number
single cell
pulmonary embolism
current status
gene expression