Children's Hospital of Philadelphia researchers have identified a gene variant that increases the risk of pediatric middle ear infections, or acute otitis media, according to a study in Nature Communications.
The researchers performed a genome-wide association study on two cohorts with DNA samples from 11,000 children.
There was an association between acute otitis media and a site on chromosome 6 containing the gene FNDC1. The researchers then replicated the finding in an independent pediatric cohort including 2,000 children.
The gene's function in humans "has not been well studied," said study leader Hakon Hakonarson, MD, PhD, director of the Center for Applied Genomics at The Children's Hospital of Philadelphia. However based on mouse model studies, the gene that corresponds to FNDC1 was expressed in the mouse's middle ear.
"Parents and pediatricians are all too familiar with this painful childhood ear infection —it's the most frequent reason children receive antibiotics," said Dr. Hakonarson. "Although microbes cause this condition, it's been well known that genetics also plays a role. This is the first and largest genetic study focused on risk susceptibility for acute otitis media."