RT Journal Article
SR Electronic
T1 SNPs in SPINK5 gene region are associated with asthma severity: Preliminary results from the gene environment interactions in respiratory diseases (GEIRD) study
JF European Respiratory Journal
JO Eur Respir J
FD European Respiratory Society
SP 1524
VO 42
IS Suppl 57
A1 Simone Accordini
A1 Cristina Bombieri
A1 Giovanni Malerba
A1 Francesca Belpinati
A1 Lucia Calciano
A1 Marcello Ferrari
A1 Anna Rita Lo Presti
A1 Luigi Perbellini
A1 Giancarlo Pesce
A1 Pier Franco Pignatti
A1 Roberto de Marco
YR 2013
UL http://erj.ersjournals.com/content/42/Suppl_57/1524.abstract
AB Aim: The present analysis is aimed at assessing the genetic polymorphisms associated with asthma severity through a candidate gene study.Methods: We evaluated 331 subjects (aged 20-64) with asthma, who were identified from the general population between 2008 and 2010 in Verona, in the clinical stage of an Italian multi-centre (multi)case-control study (GEIRD). A panel of 384 Tag-SNPs, which are representative of 69 candidate genes with a previous indication of a possible association with asthma/COPD/rhinitis, was genotyped by a custom GoldenGate Genotyping Assay. An asthma severity score (mean=3.4, range: 0-26; high values represent severe conditions) was computed by a multiple correspondence analysis on the basis of self-reported asthma-like symptoms in the past year and lung function. The association with the severity score was tested separately for each SNP by a gamma regression model, adjusting for the use of inhaled drugs for respiratory problems in the past year.Results: Three SNPs in linkage disequilibrium (LD) (min r²=0.95) in the SPINK5 gene region were significantly associated with asthma severity:View this table:Genotypic association analysisConclusion: Our preliminary results suggest that SPINK5 or genes in LD play a role in asthma severity in adults.