Familial vs. sporadic sarcoidosis: BTNL2 polymorphisms, clinical presentations, and outcomes in a French cohort.

Autor: Pacheco Y; Hospices Civils de Lyon, Centre Hospitalier Lyon Sud, Université Claude Bernard - Lyon 1, EA-7426, Lyon, France. yves.pacheco@univ-lyon1.fr.; Université Claude Bernard Lyon 1 - EA-7426, 165 Chemin du Grand Revoyet, F-69495, Pierre Benite, France. yves.pacheco@univ-lyon1.fr., Calender A; Hospices Civils de Lyon, Hôpital Edouard Herriot, Plateforme de génétique moléculaire, CR-21076, Université Claude Bernard - Lyon 1, INSERM U1052, Lyon, France., Israël-Biet D; AP-HP, Hôpital Européen Georges Pompidou, Service de Pneumologie, Centre de Compétence des maladies pulmonaires rares, Université René Descartes - Paris 5, Paris, France., Roy P; Hospices Civils de Lyon, Service de Biostatistique, Université Claude Bernard - Lyon 1, CNRS UMR 5558, Lyon, France., Lebecque S; Hospices Civils de Lyon, Hôpital Lyon-Sud, Université Claude Bernard - Lyon1, INSERM U1052 - CNRS UMR5286, Lyon, France., Cottin V; Hospices Civils de Lyon, Hôpital Louis Pradel, Université Claude Bernard - Lyon 1, UMR 754, Lyon, France., Bouvry D; AP-HP, Hôpital Avicenne, Université Paris13, EA2363, COMUE Sorbonne Paris Cité, Paris, France., Nunes H; AP-HP, Hôpital Avicenne, Université Paris13, EA2363, COMUE Sorbonne Paris Cité, Paris, France., Sève P; Hospices Civils de Lyon, Hôpital Croix-Rousse, Université Claude Bernard - Lyon 1, Lyon, France., Pérard L; Hospices Civils de Lyon, Hôpital Edouard Herriot, Université Claude Bernard - Lyon 1, Lyon, France., Devouassoux G; Hospices Civils de Lyon, Hôpital Croix-Rousse, Université Claude Bernard - Lyon 1, Lyon, France., Freymond N; Hospices Civils de Lyon, Centre Hospitalier Lyon Sud, Université Claude Bernard - Lyon 1, EA-7426, Lyon, France., Khouatra C; Hospices Civils de Lyon, Hôpital Louis Pradel, Université Claude Bernard - Lyon 1, UMR 754, Lyon, France., Wallaert B; Centre hospitalo-universitaire de Lille, Service de Pneumologie et Immunoallergologie, Centre de Compétence Maladies Pulmonaires Rares, Université Lille 2, Lille, France., Lamy R; Hospices Civils de Lyon, Hôpital Edouard Herriot, Plateforme de génétique moléculaire, CR-21076, Université Claude Bernard - Lyon 1, INSERM U1052, Lyon, France., Elsensohn MH; Hospices Civils de Lyon, Service de Biostatistique, Université Claude Bernard - Lyon 1, CNRS UMR 5558, Lyon, France., Bardel C; Hospices Civils de Lyon, Service de Biostatistique, Université Claude Bernard - Lyon 1, CNRS UMR 5558, Lyon, France., Valeyre D; AP-HP, Hôpital Avicenne, Université Paris13, EA2363, COMUE Sorbonne Paris Cité, Paris, France.
Jazyk: angličtina
Zdroj: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2016 Dec 03; Vol. 11 (1), pp. 165. Date of Electronic Publication: 2016 Dec 03.
DOI: 10.1186/s13023-016-0546-4
Abstrakt: Background: The occurrence of familial forms of sarcoidosis (OMIM 181100) suggests a genetic predisposition. The involvement of butyrophilin-like 2 (BTNL2) gene (rs2076530 variant) has to be investigated.
Results: The study performed independent analyses of BTNL2 polymorphism, clinical phenotypes, and outcomes in familial vs. sporadic presentations in 256 sporadic and 207 familial cases from 140 families. The logistic multivariate model showed that a young age at diagnosis and the combination of lung and skin involvement at diagnosis may distinguish sporadic from familial sarcoidosis (p = 0.016 and p = 0.041). We observed also that Sarcoid Clinical Activity Classification (SCAC) profiles were significantly different between familial and sporadic cases (p = 0.0497). Variant rs2076530 was more frequent in patients than in controls (OR = 2.02; 95% CI: [1.32-3.09]) but showed no difference between sporadic and familial cases and no difference according to the clinical phenotype or the outcome.
Conclusion: Despite a significant difference in BTNL2 polymorphism between sarcoid patients and controls, there was no such difference between familial and sporadic sarcoidosis cases and no correlation between BTNL2 polymorphism and disease severity or outcome. Thus, BTNL2 difference cannot be considered as a key marker for disease classification or patient management.
Databáze: MEDLINE
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