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X ‐linked inhibitor of apoptosis single nucleotide polymorphisms and copy number variation are not risk factors for asthma
Author(s) -
Roscioli Eugene,
Hamon Rhys,
Ruffin Richard E.,
Zalewski Peter,
Grant Janet,
Lester Susan
Publication year - 2013
Publication title -
respirology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.857
H-Index - 85
eISSN - 1440-1843
pISSN - 1323-7799
DOI - 10.1111/resp.12065
Subject(s) - single nucleotide polymorphism , snp , genotyping , haplotype , asthma , medicine , allele , immunology , snp genotyping , genetics , genotype , gene , biology
Abstract Background and objective Aberrant apoptosis in asthma contributes to airway inflammation. Early apoptosis and fragility of airway epithelial cells and delayed apoptosis of inflammatory lymphocytes can cooperate to increase airway inflammation. In this study, single nucleotide polymorphisms ( SNP s) and copy number variation ( CNV ) in the B aculoviral inhibitor of apoptosis protein repeat‐containing 4 ( BIRC4 ) gene (which encodes X ‐linked inhibitor of apoptosis protein) were evaluated for associations with asthma. Methods Asthma cases ( n = 203) were identified from C aucasian cohort participants in the N orth W est A delaide H ealth S tudy and matched with 198 controls. Asthma status was defined using self‐report of doctor‐diagnosed asthma, in conjunction with spirometry and bronchodilator response. Seven SNP s, which spanned the entire BIRC4 gene, were selected for the study on the basis of a haplotype tagging approach. SNP s genotyping was performed on the SEQUENOM M ass ARRAY iPLEX Gold platform, and genotyping success rate was > 98%. BIRC4 gene CNV was measured using a duplex T aqman qPCR assay, with RNA se P as the reference gene. Alleles and haplotype associations were analysed by logistic regression, assuming an additive genetic model, and adjusted for gender and atopy. Results BIRC4 gene copy number was determined entirely by gender. All SNP s were in H ardy– W einberg equilibrium for both case and control females. BIRC4 allele and haplotype frequencies were comparable between asthma cases and controls. Conclusions There is no evidence of CNV in BIRC4 , and BIRC4 is not a susceptibility gene for asthma.