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Brief Report
October 14, 2020

Contribution of Genetics to the Susceptibility to Hidradenitis Suppurativa in a Large, Cross-Sectional Dutch Twin Cohort

Author Affiliations
  • 1Department of Dermatology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands
  • 2European Reference Network (ERN) Skin, Paris, France
  • 3Netherlands Twin Register, Department of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands
JAMA Dermatol. Published online October 14, 2020. doi:10.1001/jamadermatol.2020.3630
Key Points

Question  What is the heritability of hidradenitis suppurativa in a nationwide Dutch twin cohort?

Findings  In this cross-sectional study, the narrow-sense heritability of hidradenitis suppurativa was 77% (95% CI, 54%-90%), with the remainder of the variance due to unique environmental factors based on an age-adjusted model combining additive genetic factors and unshared or unique environmental factors.

Meaning  The high heritability found in this study suggests a stronger genetic basis of hidradenitis suppurativa than previously assumed; the environmental factors were also shown to contribute to the susceptibility to hidradenitis suppurativa support a multifactorial cause of the disease.

Abstract

Importance  Hidradenitis suppurativa is a chronic, inflammatory skin disease in which genetic factors are considered to play a role, with up to 38% of patients reporting a family history. Variations in the γ-secretase genes are found mainly in familial cases with an autosomal dominant pattern of inheritance. These variations are rare in the general population with hidradenitis suppurativa, even in patients who report a family history of the disease.

Objective  To assess the heritability of hidradenitis suppurativa in a nationwide Dutch twin cohort.

Design, Setting, and Participants  In this cross-sectional study on self-reported hidradenitis suppurativa conducted from 2011 to 2016, data were collected from twins participating in the surveys of the nationwide Netherlands Twin Register. All complete twin pairs answering the question on hidradenitis suppurativa in the survey were included: 978 female monozygotic twin pairs and 344 male monozygotic twin pairs and 426 female dizygotic twin pairs, 167 male dizygotic twin pairs, and 428 dizygotic twin pairs of the opposite sex. Statistical analysis was performed from July to November 2019.

Main Outcomes and Measures  The main outcome is the proportion of susceptibility to hidradenitis suppurativa due to additive genetic factors (narrow-sense heritability), dominant genetic factors, common or shared environmental factors, or unshared or unique environmental factors. The main outcome was evaluated prior to data collection.

Results  The prevalence of hidradenitis suppurativa among twin pairs was 1.2% (58 of 4686); the mean (SD) age was 32.7 (15.4) years. The narrow-sense heritability of hidradenitis suppurativa was 77% (95% CI, 54%-90%), with the remainder of the variance due to unshared or unique environmental factors based on an age-adjusted model combining additive genetic factors and unshared or unique environmental factors.

Conclusions and Relevance  The high heritability found in this study suggests a stronger than previously assumed genetic basis of hidradenitis suppurativa. Environmental factors were also shown to contribute to the susceptibility to hidradenitis suppurativa, supporting a multifactorial cause of the disease. Moreover, the results of this study strongly support the need for a global genome-wide association study in the general population of patients with hidradenitis suppurativa.

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