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Common Genetic Variations Found in First Genome-Wide Study of Children with Sleep Apnea

New York, NY – May 6, 2020 – The first large-scale genome-wide association study in pediatric patients with obstructive sleep apnea (OSA) has provided new insights into the genetic basis for this sleep disorder in children.  The study was posted online in the Abstract Issue of the American Journal of Respiratory and Critical Care Medicine (Abstract #13116. Title:  Genome-Wide Association Study Detects Common Snp Among Pediatric Patients with Obstructive Sleep Apnea).

The researchers did genomic testing on 802 European-American and 689 African-American OSA patients ages 1-18, as well as 3,811 and 3,172 who, respectively had the same ethnicity as the children with OSA but did not have sleep apnea themselves.  Both groups of pediatric patients were found to have a common single nucleotide polymorphism (SNP).  SNPs are a common type of genetic variation between people. Each SNP represents a difference in a single DNA building block, called a nucleotide. 

“We found that there are unique significant SNPs in European-Americans and African-Americans whose genomes were tested in this study,” said first author Courtney Quinlan, DO, pediatric pulmonary medicine fellow in the Division of Pulmonary Medicine at Children's Hospital of Philadelphia.  “We had similar findings in a meta-analysis of both groups.”

Dr. Quinlan noted that, when the results were separated out by gender, she and her colleagues found unique SNPs in both European-American males and females.  They found no significant SNPs amongst African-American males and females.

“The main implication of our findings is that this common SNP is significant across ancestry,” she said. “These common SNPs may eventually guide therapeutic targets.”