Full exome sequencing of 11 families with Hidradenitis suppurativa

P Theut Riis, I C Loft, S Yazdanyar, R Kjaersgaard Andersen, O B Pedersen, H C Ring, R Huber, M Sultan, C Loesche, Dml Saunte, Gbe Jemec

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BACKGROUND: Hidradenitis suppurativa (HS) is not a well-studied or easily treated disease. Genetic information is essential for advances in the understanding and treatment of HS. This study aims to examine mutations in the gamma-secretase complex, the Notch signalling pathway and to perform a Mendelian analysis of genetic variants that segregated with disease in a full exome sequencing of 11 families with HS.

METHOD: Whole-exome sequencing and Mendelian analysis of 11 families with HS from Denmark. Patients with a clinical diagnosis of active HS and a positive family history of HS were recruited. Consenting family members were enrolled and examined for HS as well. We included 11 families, with a total of 51 participants, 24 with HS and 27 without. Whole-exome sequencing using HiSeq platform as paired-end 2 × 150 bases was used.

RESULTS: We found mutations in the Notch pathway for all families. We found mutations in the PSENEN and APH1B of the gamma-secretase genes. We also report 161 variants of unknown significance that segregated with the disease within these families.

CONCLUSIONS: 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.

Sider (fra-til)1203-1211
Antal sider9
TidsskriftJournal of the European Academy of Dermatology and Venereology : JEADV
Udgave nummer5
Tidlig onlinedato17 dec. 2020
StatusUdgivet - maj 2021


Udforsk hvilke forskningsemner 'Full exome sequencing of 11 families with Hidradenitis suppurativa' indeholder.