Identification of novel loci in obstructive sleep apnea in European American and African American children.

STUDY OBJECTIVES: To identify genetic susceptibility variants in pediatric obstructive sleep apnea in European American and African American children. METHODS: A phenotyping algorithm using electronic medical records was developed to recruit cases with OSA and control subjects from the Center for Applied Genomics at Children's Hospital of Philadelphia (CHOP.) Genome-wide association studies (GWAS) were performed in pediatric OSA cases and control subjects with European American (EA) and African American (AA) ancestry followed by meta-analysis and sex stratification. RESULTS: The algorithm accrued 1,486 subjects (46.3% European American, 53.7% African American). We identified genomic loci at 1p36.22 and 15q26.1 that associated with OSA risk in EA and AA, respectively. We also revealed a shared risk locus at 18p11.32 (rs114124196, P =1.72 ×10 -8) across EA and AA populations. Additionally, association at 1q43 (rs12754698) and 2p25.1 (rs72775219) was identified in the male-only analysis of EA children with OSA, while association at 8q21.11 (rs6472959), 11q24.3 (rs4370952) and 15q21.1 (rs149936782) was detected in the female-only analysis of EA children and association at 18p11.23 (rs9964029) was identified in the female-only analysis of African-American children. Moreover, the 18p11.32 locus was replicated in an EA cohort (rs114124196, P =8.8 ×10 -3). CONCLUSIONS: We report the first GWAS for pediatric OSA in European Americans and African Americans. Our results provide novel insights to the genetic underpins of pediatric OSA.

Pediatric pulmonology year in review 2018: Sleep medicine.

Pediatric Pulmonology publishes original research, case reports, and review articles on topics related to a wide range of children's respiratory disorders. In this article (Part 4 of a five-part series), we summarize the past year's publications in sleep medicine, in the context of selected literature in this area from other journals. Articles are highlighted on topics including infant sleep, diagnosis, and treatment of obstructive sleep apnea, and sleep disorders in chronic disease.

Upper airway visualization in pediatric obstructive sleep apnea.

Pediatric Obstructive Sleep Apnea (OSA) is a condition that may lead to a variety of comorbidities in adolescence and adulthood. The gold standard of diagnosing OSA is polysomnography (PSG). Over the past fifteen years numerous publications have explored how to better visualize the upper airway to further assess OSA in the pediatric population, and eventually institute personalized treatment. Lateral neck radiograph, cephalometry, computed axial tomography, and magnetic resonance imaging are all unique imaging techniques that are used in the diagnosis of OSA. Drug Induced Sleep Endoscopy is a direct visualization technique that is gathering momentum in pediatrics. Each approach has respective benefits and weaknesses. However, none of them at this time can replace PSG. They are a helpful supplement in those patients with complicated upper airway anatomy and in those with residual OSA.