X‐linked inhibitor of apoptosis single nucleotide polymorphisms and copy number variation are not risk factors for asthma. Issue 4 (25th April 2013)

• Record Type: Journal Article
• Authors: Roscioli, Eugene; Hamon, Rhys; Ruffin, Richard E.; Zalewski, Peter; Grant, Janet; Lester, Susan
• Is Part Of: Respirology. Volume 18:Issue 4(2013)
• Page Start: 697
• Page End: 703
• Publication Date: 2013-04-25
• Subjects: Respiratory organs -- Diseases -- Periodicals; Respiratory organs -- Periodicals; 612.2
• DOI: 10.1111/resp.12065
• Languages: English
• ISSNs: 1323-7799

Abstract

<abstract abstract-type="main"> <title>Abstract</title> <sec id="resp12065-sec-0001" sec-type="section"> <title>Background and objective</title> <p>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 (SNPs) and copy number variation (CNV) in the Baculoviral inhibitor of apoptosis protein repeat‐containing 4 (<italic>BIRC4</italic>) gene (which encodes X‐linked inhibitor of apoptosis protein) were evaluated for associations with asthma.</p> </sec> <sec id="resp12065-sec-0002" sec-type="section"> <title>Methods</title> <p>Asthma cases (<italic>n</italic> = 203) were identified from Caucasian cohort participants in the North West Adelaide Health Study and matched with 198 controls. Asthma status was defined using self‐report of doctor‐diagnosed asthma, in conjunction with spirometry and bronchodilator response. Seven SNPs, which spanned the entire <italic>BIRC4</italic> gene, were selected for the study on the basis of a haplotype tagging approach. SNPs genotyping was performed on the SEQUENOM MassARRAY iPLEX Gold platform, and genotyping success rate was > 98%. <italic>BIRC4</italic> gene CNV was measured using a duplex Taqman qPCR assay, with RNAseP as the reference gene. Alleles and haplotype associations were analysed by logistic regression, assuming an additive genetic model, and adjusted for gender and atopy.</p> </sec> <sec id="resp12065-sec-0003" sec-type="section"> <title>Results</title> <p> <italic>BIRC4</italic> gene copy number was determined entirely by gender. All SNPs were in Hardy–Weinberg equilibrium for both case and control females. <italic>BIRC4</italic> allele and haplotype frequencies were comparable between asthma cases and controls.</p> </sec> <sec id="resp12065-sec-0004" sec-type="section"> <title>Conclusions</title> <p>There is no evidence of CNV in <italic>BIRC4</italic>, and <italic>BIRC4</italic> is not a susceptibility gene for asthma.</p> </sec> </abstract>