Clinical Characteristics of the Saguenay–Lac- St-Jean Familial Collection Subjects Families ProbandsAffected relativesUnaffected relatives n = 253n = 379n.

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Presentation transcript:

Clinical Characteristics of the Saguenay–Lac- St-Jean Familial Collection Subjects Families ProbandsAffected relativesUnaffected relatives n = 253n = 379n = 643 Male : Female ratio1:1.121:1.271:1.10 Mean age, yr (range)17 (2-50)39 (2-83)46 (3-93) Median age, yr Smoking status, n (%) Never212 (85)192 (51)272 (43) Ex-Smoker12 (5)112 (30)234 (37) Smoker25 (10)71 (19)128 (20) FEV 1 *, % predicted (SD)92.7 (16.0)88.9 (22.4)99.1 (17.2) PC 20 **, mg/ml (SD)2.50 (3.63)3.35 (4.43)21.36 (3.22) Abbreviation used: FEV 1 = Forced expiratory volume in one second, PC 20 = Provocative concentration of methacholine that induces a 20% fall in FEV 1, SD = Standard deviation. * Geometric mean calculated for 218 probands, 325 affected relatives and 440 unaffected relatives ** Geometric mean of the log-transformed PC 20 calculated for 193 probands, 285 affected relatives and 418 unaffected relatives Madore et al Human Genetics

Phenotype Definition Based on the American Thoracic Society and the Canadian Asthma Consensus guidelines * 55 % * 63 % * 62 % * 52 % * Proportion in sample

Available Environmental Data  Occupational Exposures  Domestical Exposures  Carpets (including bedroom)  Pets  Smoking Status (past, present / passive exposure)  Personal respiratory infection documented  Personal health history  Personal type of allergy (indoor or outdoor)  Treatment for asthma

Genealogies parameters in the Saguenay–Lac-St-Jean Familial Collection Subjects Number of genealogies226 Total ancestral links Distinct ancestors Mean number of occurrences39.9 Mean genealogical depth11.2 Maximum genealogical depth19