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Investigation of gamma secretase gene complex mutations in German population with Hidradenitis suppurativa designate a complex polygenic heritage.

Seçil VuralM BaumgartnerP LichtnerG EcksteinH HariryW C ChenT RuzickaBodo C MelnikG PlewigM WagnerK A Giehl
Published in: Journal of the European Academy of Dermatology and Venereology : JEADV (2021)
The gamma secretase gene complex mutations were rare in our cohort (3.2%). Besides, our analysis indicates a possible complex multi-genic inheritance in a seemingly autosomal dominantly inherited large HS family. Genetics of both familial and sporadic HS may be complicated in most cases, and the role of other potential genes such as autoinflammatory and modifier genes as well as environmental factors may influence the pathogenesis.
Keyphrases
  • genome wide
  • genome wide identification
  • hidradenitis suppurativa
  • copy number
  • genome wide analysis
  • gene expression
  • late onset
  • early onset
  • amyotrophic lateral sclerosis