rs114124196 - CBX3P2 - SMCHD1

Magnitude 4.5 · 1 study on file

Reported associations

  • Identification of novel loci in obstructive sleep apnea in European American and African American children. - Sleep (2024) · Quinlan CM, Chang X, March M, Mentch FD, Qu HQ, Liu Y, Glessner J, Sleiman PMA, Hakonarson H · PubMed 35902206

    To identify genetic susceptibility variants in pediatric obstructive sleep apnea in European American and African American children. 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. The algorithm accrued 1486 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 (rs1141241


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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Discuss with your doctor

  • Genetic predisposition to obstructive sleep apnea Moderate

    rs114124196 is significantly associated with increased obstructive sleep apnea risk across populations; genetic predisposition warrants clinical evaluation

    Discuss with primary care or sleep medicine provider; consider diagnostic evaluation