The first genome-wide study of childhood sleep apnea, run separately by ancestry and by sex in nearly 1,500 children — with one risk locus that held up in both African American and European American children alike.
Pediatric obstructive sleep apnea (OSA) had never had a genome-wide genetic study until the paper behind this page. This page covers five variants from it.
A study in Sleep built a phenotyping algorithm from electronic medical records at the Center for Applied Genomics at Children's Hospital of Philadelphia, then ran genome-wide association studies separately in children of European American (EA) and African American (AA) ancestry, followed by a combined meta-analysis and separate analyses by sex. In total, 1,486 children were included — 46.3% European American, 53.7% African American.
One locus stood out for reproducing across groups: rs114124196, near SMCHD1, was associated with OSA risk in both European American and African American children, and its association replicated in a separate European American cohort.
The study also found associations specific to one sex within one ancestry group. rs72775219, in ASAP2, was identified in the male-only analysis of European American children. rs4370952, near BARX2, was identified in the female-only analysis of European American children.
Two further variants catalogued here, rs17593311 (HDDC3) and rs149622283 (UBE4B), come from the same study's genome-wide analysis; the published abstract does not specify which ancestry or sex-stratified group identified each one.
Positions joined since this page was written
What this is The text above discusses the variants this page was written around. Since then the catalogue has joined 2 more positions to it, by shared trait or shared paper. They are listed here by the paper each came from; the text does not describe them, and each variant page carries that study's own record.
Verma A et al. 2024, Science (New York, N.Y.) rs6724384 (LINC01122), rs78785910 (ETV5) — PMID:39024449
Pediatric obstructive sleep apnea is diagnosed by clinical evaluation and sleep study (polysomnography), not by genotype. These five variants are risk-locus findings from the first genome-wide study of the condition, not diagnostic markers.
The study's design — separate genome-wide analyses by ancestry, then further split by sex — is itself part of what it found: most of the loci identified were specific to one ancestry and, within that, often to one sex. Only the SMCHD1-region locus (rs114124196) showed up consistently across both ancestry groups studied.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Pediatric Obstructive Sleep Apnea comes down to these specific, well-studied positions — not a diagnosis.
Databases, guidelines and references
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Pediatric Obstructive Sleep Apnea. MyGeneLog™. https://www.mygenelog.com/conditions/pediatric-obstructive-sleep-apnea
Pediatric obstructive sleep apnea (OSA) is a sleep disorder in children involving repeated airway obstruction during sleep. The study behind this page was the first genome-wide genetic study of the condition.
Mostly no. Most loci found in this study were specific to one ancestry group, and often to one sex within it — only one locus, near SMCHD1, was associated with OSA risk in both European American and African American children studied.
Researchers built a phenotyping algorithm using electronic medical records at Children’s Hospital of Philadelphia to identify cases and control subjects, rather than requiring a new sleep study for every participant.
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