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Evaluation of 15 functional candidate genes for association with chronic otitis media with effusion and/or recurrent otitis media (COME/ROM)

Sale, MM and Chen, WM and Weeks, DE and Mychaleckyj, JC and Hou, X and Marion, M and Segade, F and Casselbrant, ML and Mandel, EM and Ferrell, RE and Rich, SS and Daly, KA (2011) Evaluation of 15 functional candidate genes for association with chronic otitis media with effusion and/or recurrent otitis media (COME/ROM). PLoS ONE, 6 (8).

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Abstract

DNA sequence variants in genes involved in the innate immune response and secondary response to infection may confer susceptibility to chronic otitis media with effusion and/or recurrent otitis media (COME/ROM). We evaluated single nucleotide polymorphisms (SNPs) in 15 functional candidate genes. A total of 99 SNPs were successfully genotyped on the Sequenom platform in 142 families (618 subjects) from the Minnesota COME/ROM Family Study. Data were analyzed for association with COME/ROM using the Generalized Disequilibrium Test (GDT). Sex and age at exam were adjusted as covariates, relatedness was accounted for, and genotype differences from all phenotypically discordant relative pairs were utilized to measure the evidence of association between COME/ROM and each SNP. SNP rs2735733 in the region of the mucin 5, subtypes A/C gene (MUC5AC) exhibited nominal evidence for association with COME/ROM (P = 0.002). Two additional SNPs from this region had P values<0.05. Other variants exhibiting associations with COME/ROM at P<0.05 included the SCN1B SNP rs8100085 (P = 0.013), SFTPD SNP rs1051246 (P = 0.039) and TLR4 SNP rs2770146 (P = 0.038). However, none of these associations replicated in an independent sample of COME/ROM families. The candidate gene variants examined do not appear to make a major contribution to COME/ROM susceptibility, despite a priori evidence from functional or animal model studies for a role in COME/ROM pathology. © 2011 Sale et al.


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Details

Item Type: Article
Status: Published
Creators/Authors:
CreatorsEmailPitt UsernameORCID
Sale, MM
Chen, WM
Weeks, DEweeks@pitt.eduWEEKS0000-0001-9410-7228
Mychaleckyj, JC
Hou, X
Marion, M
Segade, F
Casselbrant, MLcasselm@pitt.eduCASSELM
Mandel, EM
Ferrell, RErferrell@pitt.eduRFERRELL
Rich, SS
Daly, KA
Contributors:
ContributionContributors NameEmailPitt UsernameORCID
EditorEwart Toland, AmandaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Date: 19 August 2011
Date Type: Publication
Journal or Publication Title: PLoS ONE
Volume: 6
Number: 8
DOI or Unique Handle: 10.1371/journal.pone.0022297
Schools and Programs: Graduate School of Public Health > Biostatistics
Graduate School of Public Health > Human Genetics
Refereed: Yes
MeSH Headings: Adolescent; Adult; Alleles; Child; Chronic Disease; Family Health; Female; Gene Frequency; Genetic Predisposition to Disease--genetics; Genotype; Humans; Linkage Disequilibrium; Male; Middle Aged; Mucin 5AC--genetics; Otitis Media--genetics; Otitis Media--pathology; Otitis Media with Effusion--genetics; Otitis Media with Effusion--pathology; Polymorphism, Single Nucleotide; Recurrence; Sodium Channels--genetics; Toll-Like Receptor 4--genetics; Young Adult
Other ID: NLM PMC3156706
PubMed Central ID: PMC3156706
PubMed ID: 21857919
Date Deposited: 05 Sep 2012 19:03
Last Modified: 04 Feb 2019 15:55
URI: http://d-scholarship.pitt.edu/id/eprint/13888

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