title: Evaluation of replication of variants associated with genetic risk of otitis media.
abstract: The first Genome Wide Association Study (GWAS) of otitis media (OM) found evidence of association in the Western Australian Pregnancy Cohort (Raine) study, but lacked replication in an independent OM population. The aim of this study was to investigate association at these loci in our family-based sample of chronic otitis media with effusion and recurrent otitis media (COME/ROM). Autosomal SNPs were selected from the Raine OM GWAS results. SNPs from the Raine cohort GWAS genotyped in our GWAS of COME/ROM had P-values ranging from P = 0.06-0.80. After removal of SNPs previously genotyped in our GWAS of COME/ROM (N = 21) and those that failed Fluidigm assay design (N = 1), 26 SNPs were successfully genotyped in 716 individuals from our COME/ROM family population. None of the SNP associations replicated in our family-based population (unadjusted P = 0.03-0.93). Replication in an independent sample would confirm that these represent novel OM loci, and that further investigation is warranted.
authors.affiliation: Center for Public Health Genomics, University of Virginia, Charlottesville, Virginia, United States of America; Department of Biochemistry and Molecular Genetics, University of Virginia, Charlottesville, Virginia, United States of America.
authors.forename: E Kaitlynn
authors.initials: EK
authors.lastname: Allen
authors.affiliation: Center for Public Health Genomics, University of Virginia, Charlottesville, Virginia, United States of America.
authors.forename: Ani
authors.initials: A
authors.lastname: Manichaikul
authors.affiliation: Center for Public Health Genomics, University of Virginia, Charlottesville, Virginia, United States of America.
authors.forename: Wei-Min
authors.initials: WM
authors.lastname: Chen
authors.affiliation: Center for Public Health Genomics, University of Virginia, Charlottesville, Virginia, United States of America; Department of Public Health Sciences, University of Virginia, Charlottesville, Virginia, United States of America.
authors.forename: Stephen S
authors.initials: SS
authors.lastname: Rich
authors.affiliation: Department of Otolaryngology, University of Minnesota, Minneapolis, Minnesota, United States of America.
authors.forename: Kathleen A
authors.initials: KA
authors.lastname: Daly
authors.affiliation: Center for Public Health Genomics, University of Virginia, Charlottesville, Virginia, United States of America; Department of Biochemistry and Molecular Genetics, University of Virginia, Charlottesville, Virginia, United States of America; Department of Medicine, University of Virginia, Charlottesville, Virginia, United States of America.
authors.forename: Michèle M
authors.initials: MM
authors.lastname: Sale
mesh_terms: D001315:Australia; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D010033:Otitis Media / Q000235:genetics* / Q000473:pathology; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D012307:Risk Factors
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