genome-wide association study to identify the genetic determinants of otitis media susceptibility in childhood全基因组关联研究确定中耳炎易感性的遗传因素在童年.pdfVIP

Genome-Wide Association Study to Identify the Genetic Determinants of Otitis Media Susceptibility in Childhood 1 2 1 3,4 Marie S. Rye *, Nicole M. Warrington , Elizabeth S. H. Scaman , Shyan Vijayasekaran , 3,4 1 2 1 1 Harvey L. Coates , Denise Anderson , Craig E. Pennell , Jenefer M. Blackwell , Sarra E. Jamieson * 1Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, Subiaco, Australia, 2 School of Women’s and Infants’ Health, University of Western Australia, Perth, Australia, 3 Department of Otolaryngology, Head and Neck Surgery, Princess Margaret Hospital for Children, Perth, Australia, 4 Department of Otolaryngology, Head and Neck Surgery, University of Western Australia, Western Australia, Australia Abstract Background: Otitis media (OM) is a common childhood disease characterised by middle ear inflammation and effusion. Susceptibility to recurrent acute OM (rAOM; $3 episodes of AOM in 6 months) and chronic OM with effusion (COME; MEE $3 months) is 40–70% heritable. Few underlying genes have been identified to date, and no genome-wide association study (GWAS) of OM has been reported. Methods and Findings: Data for 2,524,817 single nucleotide polymorphisms (SNPs; 535,544 quality-controlled SNPs genotyped by Illumina 660W-Quad; 1,989,273 by imputation) were analysed for association with OM in 416 cases and 1,075 controls from the Western Australian Pregnancy Cohort (Raine) Study. Logistic regression analyses under an additive model