Extract
Sarcoidosis is a complex disease characterised by the presence of epithelioid non-caseating granulomatous inflammation affecting multiple organs and whose aetiology has been related to microbial, environmental and genetic factors [1, 2]. However, no single antigenic trigger has been identified, although associations with Propionibacterium acnes and mycobacteria pathogen-associated molecular pattern, deposition of serum amyloid A, and exposure to inorganic particles and insecticides have been suggested [3–5]. Occurrence of familial cases suggests that genetic variation contributes to disease pathogenesis with a heritability of about 39% [6]. Despite intensive genome-wide association studies, no single nucleotide polymorphism is, as yet, able to explain the “missing heritability” in the disease, especially for non-resolving, non-Löfgren syndrome sarcoidosis [5–7].
Abstract
Sarcoidosis is a multifactorial disease induced by environmental and genetic factors. Whole exome sequencing in 5 familial cases of the disease suggest that genetic defects in Rac1 and mTor functional hubs may be relevant to sarcoidosis pathogenesis. http://bit.ly/2xooHx3
Footnotes
Conflict of interest: A. Calender has nothing to disclose.
Conflict of interest: C.X. Lim has nothing to disclose.
Conflict of interest: T. Weichhart has nothing to disclose.
Conflict of interest: A. Buisson has nothing to disclose.
Conflict of interest: V. Besnard has nothing to disclose.
Conflict of interest: P.A. Rollat-Farnier has nothing to disclose.
Conflict of interest: C. Bardel has nothing to disclose.
Conflict of interest: P. Roy has nothing to disclose.
Conflict of interest: V. Cottin reports personal fees for lecturing and consultancy, and non-financial support for travel from Actelion, grants, personal fees for development of educational material, lecturing and consultancy, and non-financial support for travel from Boehringer Ingelheim, personal fees for consultancy from Bayer/MSD, GSK and Galapagos, personal fees for adjudication board work from Gilead, personal fees for lecturing and consultancy from Novartis, grants, personal fees for lecturing and consultancy, and non-financial support for travel from Roche, grants from Sanofi, personal fees for data monitoring committee work from Promedior and Celgene, outside the submitted work.
Conflict of interest: G. Devouassoux has nothing to disclose.
Conflict of interest: A. Finat has nothing to disclose.
Conflict of interest: S. Pinson has nothing to disclose.
Conflict of interest: S. Lebecque has nothing to disclose.
Conflict of interest: H. Nunes reports grants and personal fees for consultancy from Roche/Genentech and Boehringer Ingelheim, and has acted as an investigator in a clinical trial for Sanofi and Gilead, outside the submitted work.
Conflict of interest: D. Israel-Biet has nothing to disclose.
Conflict of interest: A. Bentaher has nothing to disclose.
Conflict of interest: D. Valeyre reports personal fees for advisory board work from Boehringer Ingelheim and Roche, personal fees for lecturing from AstraZeneca, financial support for transportation and accommodation related to scientific meetings from Boehringer Ingelheim and Roche, outside the submitted work.
Conflict of interest: Y. Pacheco has nothing to disclose.
Support statement: This work was support by the Austrian Science Fund (P27701-B20 and P30857-B28), Fondation Maladies Rares (2016) and INNOVARC-DGOS (12-027-0309). Funding information for this article has been deposited with the Crossref Funder Registry.
- Received November 5, 2018.
- Accepted April 14, 2019.
- Copyright ©ERS 2019