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Respir Res. 2018 Mar 20;19(1):44. doi: 10.1186/s12931-018-0748-5.

G908R NOD2 variant in a family with sarcoidosis.

Author information

1
Université Paris 13, Sorbonne Paris Cité, Laboratoire EA2363 "Hypoxie et Poumon", 74 rue Marcel Cachin, 93017, Bobigny cedex, France. valerie.besnard@univ-paris13.fr.
2
Génétique des cancers et maladies multifactorielles, Hospices Civils de Lyon, GHE, Centre de Biologie et Pathologie ES, Bron, France.
3
Université Paris 13, Sorbonne Paris Cité, Laboratoire EA2363 "Hypoxie et Poumon", 74 rue Marcel Cachin, 93017, Bobigny cedex, France.
4
AP-HP, Hôpital Avicenne, Bobigny, France.
5
Hospices Civils de Lyon, Centre Hospitalier Lyon Sud, Université Claude Bernard - Lyon 1, EA-7426, Lyon, France.
6
Université Claude Bernard Lyon 1 - EA-7426, 165 Chemin du Grand Revoyet, F-69495, Pierre Benite, France.
7
Department of Internal Medicine and Clinical Immunology, Groupe Hospitalier La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.

Abstract

BACKGROUND:

Sarcoidosis is a systemic disease characterized by the formation of immune granulomas in various organs, mainly the lungs and the lymphatic system. Exaggerated granulomatous reaction might be triggered in response to unidentified antigens in individuals with genetic susceptibility. The present study aimed to determine the genetic variants implicated in a familial case of sarcoidosis.

METHODS:

Sarcoidosis presentation and history, NOD2 profile, NF-κB and cytokine production in blood monocytes/macrophages were evaluated in individuals from a family with late appearance of sarcoidosis.

RESULTS:

In the present study, we report a case of familial sarcoidosis with typical thoracic sarcoidosis and carrying the NOD2 2722G > C variant. This variant is associated with the presence of three additional SNPs for the IL17RA, KALRN and EPHA2 genes, which discriminate patients expressing the disease from others. Despite a decrease in NF-κB activity, IL-8 and TNF-A mRNA levels were increased at baseline and in stimulated conditions.

CONCLUSIONS:

Combination of polymorphisms in the NOD2, IL17RA, EPHA2 and KALRN genes could play a significant role in the development of sarcoidosis by maintaining a chronic pro-inflammatory status in macrophages.

KEYWORDS:

Familial sarcoidosis; Genetic susceptibility; NOD2

PMID:
29554915
PMCID:
PMC5859391
DOI:
10.1186/s12931-018-0748-5
[Indexed for MEDLINE]
Free PMC Article

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