Clinical Characteristics of the Clinical Characteristics of the Saguenay–Lac-St-Jean Familial Saguenay–Lac-St-Jean Familial Collection SubjectsCollection Subjects

Families

Probands Affected relatives Unaffected relatives

n = 253 n = 379 n = 643

Male : Female ratio 1:1.12 1:1.27 1:1.10

Mean age, yr (range) 17 (2-50) 39 (2-83) 46 (3-93)

Median age, yr 15 40 46

Smoking status, n (%)

Never 212 (85) 192 (51) 272 (43)

Ex-Smoker 12 (5) 112 (30) 234 (37)

Smoker 25 (10) 71 (19) 128 (20)

FEV1 *, % predicted (SD) 92.7 (16.0) 88.9 (22.4) 99.1 (17.2)

PC20**, mg/ml (SD) 2.50 (3.63) 3.35 (4.43) 21.36 (3.22)

Abbreviation used: FEV1 = Forced expiratory volume in one second, PC20 = Provocative concentration of methacholine that induces a 20% fall in FEV1, SD = Standard deviation.

* Geometric mean calculated for 218 probands, 325 affected relatives and 440 unaffected relatives** Geometric mean of the log-transformed PC20 calculated for 193 probands, 285 affected relatives and 418 unaffected relatives Madore et al. 2008. Human Genetics

Phenotype DefinitionPhenotype DefinitionPhenotype DefinitionPhenotype DefinitionBased on the American Thoracic Society and the Canadian Asthma Consensus guidelines

* 55 %

* 63 %

* 62 %

* 52 %

* Proportion in sample

Available Environmental Available Environmental DataData

Available Environmental Available Environmental DataData

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 Genealogies parameters in the in the

Saguenay–Lac-St-Jean Saguenay–Lac-St-Jean Familial Collection Familial Collection

SubjectsSubjectsNumber of genealogies 226

Total ancestral links 2 216 822

Distinct ancestors 55 492

Mean number of occurrences 39.9

Mean genealogical depth 11.2

Maximum genealogical depth 19