The Saguenay-Lac-Saint-Jean asthma familial collection: the genetics of asthma in a young founder population.
作者： C Laprise
DOI: 10.1038/GENE.2014.12
关键词:
摘要: To study the genetics of asthma, a familial collection was built in Saguenay-Lac-Saint-Jean (SLSJ) region, which is localized northeastern Quebec, Canada, and characterized by young founder effect. Recruitment performed through probands with specific asthma phenotype. The includes 1394 individuals distributed 271 families. A phenotypic profile including more than 75 characteristics defined for each participant using standardized questionnaire, respiratory measures allergic tests. genome-wide association on 1214 these samples asthma-related phenotypes (asthma, atopy rhinitis) white blood cell types performed. These analyses allowed associating 10 single nucleotide polymorphisms (SNPs) P<1 × 10−5 11 SNPs counts. Among them, four are located or near genes functions related to allergy. Moreover, several loci were identified as 5q31.1 that 22 associated (P<1 10−3) cytokine cluster, 17q21.2 seven asthma. This highlights value fine description effect search genetic determinants involved complex traits such
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