TY - JOUR T1 - Comparative phenotype and BTNL2 polymorphism in familial and sporadic sarcoidosis in the French SARCFAM cohort JF - European Respiratory Journal JO - Eur Respir J VL - 44 IS - Suppl 58 SP - 1734 AU - Yves Pacheco AU - Alain Calender AU - Serge Lebecque AU - Dominique Valeyre AU - Dominique Israel-Biet AU - Vincent Cottin AU - Pascal Roy AU - Claire Bardel AU - Mad Hélénie Elsensohn Y1 - 2014/09/01 UR - http://erj.ersjournals.com/content/44/Suppl_58/1734.abstract N2 - Familial clustering and epidemiologic studies suggest a genetic susceptibility to sarcoidosis that may be associated with a difference in phenotype. The objective of the study was to compare the phenotype and the polymorphisms of the BTNL2 gene in familial and sporadic sarcoidosis. The cohort included 485 patients with histologically proved sarcoidosis (274 women, 211 men), with 267 sporadic cases (SC), and 218 familial cases (FC) from 142 families with at least two first-degree relatives with documented sarcoidosis. The clinical phenotype was studied retrospectively, and the polymorphisms of the BTNL2 gene were analysed. The sex ratio and ethnicity (77% Caucasian, 20% African/Caribbean and 3% from Asia) did not differ between FC and SC. The mean age at diagnosis was 38+1.9 yr in FC and 43+1.9 in SC (p=0.001). At the date of diagnosis the number of affected organs was significantly greater in FC than in SC (OR=1.29, p=0.01). The mean clinical severity score (range, 0-106) based on the number of affected organs and the clinical/biological manifestations was 17.2 at baseline, with no difference between FC and SC. Löfgren syndrome was present in 57 patients. Radiological stages were I (41%), II (41%), III (12.33%) and IV (5.4%), respectively. A total of 333 patients were treated, with no difference between groups. The frequency of the rs 2076530 polymorphism in BTNL2 was similar in FC and SC. In conclusion, familial sarcoidosis differs from sporadic disease only by earlier onset and higher number of affected organs. SARCFAM is an interesting tool for a study on natural history and the identification of new genetic loci in this disease. ER -