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

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

Orphanet J Rare Dis. 2016 Dec 3;11(1):165.

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

Pacheco Y1,2, Calender A3, Israël-Biet D4, Roy P5, Lebecque S6, Cottin V7, Bouvry D8, Nunes H8, Sève P9, Pérard L10, Devouassoux G9, Freymond N11, Khouatra C7, Wallaert B12, Lamy R3, Elsensohn MH5, Bardel C5, Valeyre D8; GSF group.

Collaborators (49)

Author information

Abstract

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.

KEYWORDS:

Candidate gene association study; Classification; Human BTNL2 protein; Medical genetics; Sarcoidosis

PMID:

 

27914482

 

PMCID:

 

PMC5135764

 

DOI:

 

10.1186/s13023-016-0546-4

Free PMC Article

From HuGE Literature Finder Database

This database contains published literature on genetic associations and other human genome epidemiology

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