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: Genotypic association analysis SNP rs4357026 rs1862439 rs3777143 genotype C/C or C/G G/G T/T or C/T C/C A/A or A/G G/G n° of subjects 287 42 279 37 288 40 mean score 3.6 1.8 3.7 1.9 3.5 1.9 p-value* 0.000036 0.000113 0.000109 corrected p-value** 0.014 0.044 0.042 * adjusted for the use of inhaled drugs for respiratory problems in the past year; ** obtained by multiplying the p-value by 384 according to the Bonferroni correction Conclusion: Our preliminary results suggest that SPINK5 or genes in LD play a role in asthma severity in adults.
Accordini et al. (Sun,) studied this question.
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