Full exome sequencing of 11 families with Hidradenitis suppurativa
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Full exome sequencing of 11 families with Hidradenitis suppurativa. / Theut Riis, P; Loft, I C; Yazdanyar, S; Kjaersgaard Andersen, R; Pedersen, O B; Ring, H C; Huber, R; Sultan, M; Loesche, C; Saunte, D M L; Jemec, G B E.
In: Journal of the European Academy of Dermatology and Venereology : JEADV, Vol. 35, No. 5, 2021, p. 1203-1211.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Full exome sequencing of 11 families with Hidradenitis suppurativa
AU - Theut Riis, P
AU - Loft, I C
AU - Yazdanyar, S
AU - Kjaersgaard Andersen, R
AU - Pedersen, O B
AU - Ring, H C
AU - Huber, R
AU - Sultan, M
AU - Loesche, C
AU - Saunte, D M L
AU - Jemec, G B E
PY - 2021
Y1 - 2021
N2 - 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.
AB - 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.
U2 - 10.1111/jdv.17095
DO - 10.1111/jdv.17095
M3 - Journal article
C2 - 33336462
VL - 35
SP - 1203
EP - 1211
JO - Journal of the European Academy of Dermatology and Venereology
JF - Journal of the European Academy of Dermatology and Venereology
SN - 0926-9959
IS - 5
ER -
ID: 258283012