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An association study between the Clara cell secretory protein CC16 A38G polymorphism and asthma phenotypes
Author(s) -
Mansur A. H.,
Fryer A. A.,
Hepple M.,
Strange R. C.,
Spiteri M. A.
Publication year - 2002
Publication title -
clinical and experimental allergy
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 154
eISSN - 1365-2222
pISSN - 0954-7894
DOI - 10.1046/j.1365-2222.2002.01426.x
Subject(s) - asthma , allele , genotype , biology , immunology , population , polymorphism (computer science) , genetics , medicine , gene , environmental health
Summary Background Previously, an association has been reported between an increased risk of asthma and a polymorphism in the Clara cell secretory protein (CC16) gene [namely, an adenine to guanine substitution in the CC16 gene at position 38 (A38G) downstream from the transcription initiation site within the noncoding region of exon 1]. Homozygous individuals for the polymorphic sequence (AA genotype) were reported to have a significant (6.9 fold) increased risk of developing asthma. This finding has not been confirmed independently. Objective To validate the association of CC16 A38G polymorphism to asthma in a separate well‐characterized population through a case–control study. Methods We conducted an association study using a sample of 217 unrelated Northern European Caucasians. Individuals were clinically characterized by a validated respiratory questionnaire, spirometry and bronchial reactivity measurement, and genotyped for the A38G polymorphism using PCR and restriction digestion. Association analysis was performed using the nonparametric Chi‐squared tests. Results In the unselected population, 43.3% participants were homozygous for the CC16*G allele and 45.4% were heterozygous (AG). We observed no significant difference in the distribution of positive bronchial reactivity to methacholine (at FEV 1 PC 20 of ≤ 8 mg/mL) across the three genotypes. Homozygous individuals for the CC16*A allele did not demonstrate an increased risk of asthma when compared to heterozygous or GG homozygotes. In addition, no significant difference was observed in the distribution of the CC16*A or *G alleles in the asthmatics vs. non‐asthmatics. Conclusion CC16 polymorphism A38G does not influence the predisposition to asthma in this sample.