Genetics of otitis media

Abstract

There is a growing body of evidence, both from animal and human studies, that host genetic factors can influence the risk of developing otitis media (OM). The role of genetics in OM has been elucidated through studies with monozygotic and dizygotic twins, analyses linking genetic polymorphisms to OM susceptibility, and genome scans. Several twin studies have shown a strong genetic component to middle ear effusion risk, with the estimate of the role of heredity for the proportion of time with middle ear effusions being around 0.7. Genetic polymorphisms in plasminogen activator inhibitor-1, interleukin-6, tumor necrosis factor-α, human leukocyte antigen, and mannose-binding lectin have been variously linked with OM and upper respiratory infection susceptibility. Several genome linkage studies have identified chromosomal regions associated with chronic OM, including 3p, 10q, 10q22.3, 17q12 and 19q. A number of candidate genes are associated with these sites. Given the current state of understanding of the role of genetics in OM, a family history of OM should be ascertained for all patients. Children with a strong family history of OM should be considered as candidates for a more aggressive early treatment of OM, particularly if other risk factors are present. These children may be earlier candidates for the placement of tympanostomy tubes and/or adenoidectomy. Existing data do not support routine genetic testing to determine a child's susceptibility to OM; however, given the advances in whole genome sequencing, such testing may someday play a role in the management of the OM patient.