Genome-wide association analysis reveals variants on chromosome 19 that contribute to childhood risk of chronic otitis media with effusion

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http://hdl.handle.net/10138/167560

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Einarsdottir , E , Hafren , L , Leinonen , E , Bhutta , M F , Kentala , E , Kere , J & Mattila , P S 2016 , ' Genome-wide association analysis reveals variants on chromosome 19 that contribute to childhood risk of chronic otitis media with effusion ' , Scientific Reports , vol. 6 , 33240 . https://doi.org/10.1038/srep33240

Title: Genome-wide association analysis reveals variants on chromosome 19 that contribute to childhood risk of chronic otitis media with effusion
Author: Einarsdottir, Elisabet; Hafren, Lena; Leinonen, Eira; Bhutta, Mahmood F.; Kentala, Erna; Kere, Juha; Mattila, Petri S.
Contributor: University of Helsinki, Research Programs Unit
University of Helsinki, Clinicum
University of Helsinki, Research Programs Unit
University of Helsinki, Korva-, nenä- ja kurkkutautien klinikka
University of Helsinki, Research Programs Unit
University of Helsinki, Clinicum
Date: 2016-09-16
Language: eng
Number of pages: 11
Belongs to series: Scientific Reports
ISSN: 2045-2322
URI: http://hdl.handle.net/10138/167560
Abstract: To identify genetic risk factors of childhood otitis media (OM), a genome-wide association study was performed on Finnish subjects, 829 affected children, and 2118 randomly selected controls. The most significant and validated finding was an association with an 80 kb region on chromosome 19. It includes the variants rs16974263 (P = 1.77 x 10(-7), OR = 1.59), rs268662 (P = 1.564 x 10(-6), OR = 1.54), and rs4150992 (P = 3.37 x 10(-6), OR = 1.52), and harbors the genes PLD3, SERTAD1, SERTAD3, HIPK4, PRX, and BLVRB, all in strong linkage disequilibrium. In a sub-phenotype analysis of the 512 patients with chronic otitis media with effusion, one marker reached genome-wide significance (rs16974263, P = 2.92 x 10(-8)). The association to this locus was confirmed but with an association signal in the opposite direction, in a UK family cohort of 4860 subjects (rs16974263, P = 3.21 x 10(-4), OR = 0.72; rs4150992, P = 1.62 x 10(-4), OR = 0.71). Thus we hypothesize that this region is important for COME risk in both the Finnish and UK populations, although the precise risk variants or haplotype background remain unclear. Our study suggests that the identified region on chromosome 19 includes a novel and previously uncharacterized risk locus for OM.
Subject: CYTOKINE GENE POLYMORPHISMS
SINGLE NUCLEOTIDE POLYMORPHISMS
SUSCEPTIBILITY LOCI
VIRUS-INFECTION
CHILDREN
VISUALIZATION
COME/ROM
IMMUNITY
LINKAGE
SCAN
3111 Biomedicine
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