Abstract
BackgroundOtitis media (OM) is a common worldwide pediatric health care problem that is known to be influenced by genetics. The objective of our study was to use linkage analysis to map possible OM susceptibility genes.MethodsUsing a stringent diagnostic model in which only those who underwent tympanostomy tube insertion at least once for recurrent/persistent OM are considered affected, we have carried out a genome-wide linkage scan using the 10K Affymetrix SNP panel. We genotyped 403 Caucasian families containing 1,431 genotyped individuals and 377 genotyped affected sib pairs, and 26 African American families containing 75 genotyped individuals and 27 genotyped affected sib pairs. After careful quality control, non-parametric linkage analysis was carried out using 8,802 SNPs.ResultsIn the Caucasian-only data set, our most significant linkage peak is on chromosome 17q12 at rs226088 with a p-value of 0.00007. Other peaks of potential interest are on 10q22.3 (0.00181 at rs1878001), 7q33 (0.00105 at rs958408), 6p25.1 (0.00261 at rs554653), and 4p15.2 (0.00301 at rs2133507). In the combined Caucasian and African American dataset, the 10q22.3 peak becomes more significant, with a minimal p-value of 0.00026 at rs719871. Family-based association testing reveals signals near previously implicated genes: 513 kb from SFTPA2 (10q22.3), 48 kb from IFNG (12q14), and 870 kb from TNF (6p21.3).ConclusionOur scan does not provide evidence for linkage in the previously reported regions of 10q26.3 and 19q13.43. Our best-supported linkage regions may contain susceptibility genes that influence the risk for recurrent/persistent OM. Plausible candidates in 17q12 include AP2B1, CCL5, and a cluster of other CCL genes, and in 10q22.3, SFTPA2.
Highlights
Otitis media (OM) is a common worldwide pediatric health care problem that is known to be influenced by genetics
In 1996, Gates [1] estimated the costs for acute OM (AOM) and chronic otitis media with effusion (COME) in the U.S at approximately 3 billion and 2 billion dollars, respectively
The subjects were selected from patients who presented to the ENT Research Center from several sources: the ENT Clinic at the Children's Hospital of Pittsburgh (CHP) and satellite clinics, subjects who were in other studies at the ENT Research Center, or from physician- or self-referral
Summary
Otitis media (OM) is a common worldwide pediatric health care problem that is known to be influenced by genetics. Otitis media (OM [MIM 166760]) is a worldwide pediatric health care problem. Most children experience at least one episode of acute OM (AOM). In children who experience recurrent/persistent disease, in addition to the short- and long-term effect on the child places considerable financial burden on the families (parental time, transportation, medications) and on the health-care system (clinic visits, medical and surgical therapies, complications). In 1996, Gates [1] estimated the costs for AOM and chronic otitis media with effusion (COME) in the U.S at approximately 3 billion and 2 billion dollars, respectively. In addition to the financial burden, the psychosocial impact of OM on the child and the family is tremendous, but has not been well studied
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