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Journal of Applied Genetics 46(1), 2005, pp. 93-104

A review of asthma genetics: gene expression studies and recent candidates

Giovanni Malerba, Pier F. Pignatti

Abstract: Recent evidence indicates an important role of inflammation pathways, airways remodeling and epithelium activation in asthma genetics. In particular, transcriptome studies have detected differentially expressed genes involved in eosinophil apoptosis, the arginase pathway, response to allergens or interleukins, and to inhaled corticosteroids. Candidate gene and genome wide studies have localized genetic regions involved in the disease, such as the A1AR and CLCA1 genes (chromosome 1), IL-1RN and DPP10 (2q14), HLA-G and TNF-a (6p21), GPRA (7p14), FceRI and GSTP1 (11q13), NOS1, IFNG, STAT6, VDR, and other genes (12q13-26), PHF11 and flanking genes (13q14), AACT and PTGDR (14q), and ADAM33 (20p13). The role of these and other genetic determinants has to be confirmed in future, preferably longitudinal, studies.

Key words: association, asthma, atopy, expression, gene, genome, haplotype.

Correspondence: G. Malerba, Department of Mother and Child and Biology-Genetics, Section of Biology and Genetics, University of Verona, Strada le Grazie 8, 37134, Verona, Italy; e-mail:

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