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

Authors

Courtney M. Quinlan DO, MS, Lehigh Valley Health NetworkFollow
Xiao Chang, University of Pennsylvania
Michael March, University of Pennsylvania
Frank D Mentch, University of Pennsylvania
Hui-Qi Qu, University of Pennsylvania
Yichuan Liu, University of Pennsylvania
Joseph Glessner, University of Pennsylvania
Patrick M A Sleiman, University of Pennsylvania
Hakon Hakonarson, University of Pennsylvania

Publication/Presentation Date

7-29-2022

Abstract

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.

ISSN

1550-9109

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

Disciplines

Medicine and Health Sciences | Pediatrics

PubMedID

35902206

Department(s)

Department of Pediatrics

Document Type

Article