Volume 6 Supplement 3
Association between filaggrin family member genes, asthma, atopy and atopic asthma with atopic dermatitis history in the subjects from the Saguenay-Lac-Saint-Jean founder population
© Lambert et al; licensee BioMed Central Ltd. 2010
Published: 26 November 2010
To perform an association study between the filaggrin (FLG) and the filaggrin family member 2 (FLG2) tagging single nucleotide polymorphisms (tagSNPs) and asthma, atopy, atopic asthma, as well as these affections in the presence of atopic dermatitis (AD).
Five tagSNPs covering FLG have been genotyped in 237 trios from the Saguenay-Lac-Saint-Jean population using a Sequenom panel. In addition, a genome-wide association study (GWAS) has also been done for the same trios in the large-scale GABRIEL project http://www.gabriel-fp6.org/. The polymorphisms (SNPs) included in FLG and FLG2 as well as those in the 3' and 5' UTR regions were extracted. Six SNPs were extracted for FLG (for a total of 11 SNPs when including the Sequenom panel) and 2 SNPs for FLG2. The association study for all the affections was done using a family-based association test (FBAT). The results were corrected using the Li and Ji method .
Association of FLG haplotype and tagSNPs with asthma and atopy (A) and with asthma and atopy that co-occur with the presence of a personal history of atopic dermatitis (B)
Asthma and AD
Atopy and AD
Atopic asthma and AD
To conclude, FLG and FLG2 are genes associated with asthma. Functional studies will be necessary to document the molecular structure (sequence) and role of these genes in asthma and the impact of the genetic variants.
Identification of associated genes is fundamental to document the molecular nature of asthma in order to increase knowledge of the pathophysiology of this complex trait.
This article is published under license to BioMed Central Ltd.