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.
Published In/Presented At
Quinlan, C. M., Chang, X., March, M., Mentch, F. D., Qu, H. Q., Liu, Y., Glessner, J., Sleiman, P. M. A., & Hakonarson, H. (2022). Identification of novel loci in obstructive sleep apnea in European American and African American children. Sleep, zsac182. Advance online publication. https://doi.org/10.1093/sleep/zsac182
Medicine and Health Sciences | Pediatrics
Department of Pediatrics