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

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Presentation on theme: "Clinical Characteristics of the Saguenay–Lac- St-Jean Familial Collection Subjects Families ProbandsAffected relativesUnaffected relatives n = 253n = 379n."— Presentation transcript:

1 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, yr154046 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. 2008. Human Genetics

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

3 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

4 Genealogies parameters in the Saguenay–Lac-St-Jean Familial Collection Subjects Number of genealogies226 Total ancestral links2 216 822 Distinct ancestors55 492 Mean number of occurrences39.9 Mean genealogical depth11.2 Maximum genealogical depth19


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