Characterization of genetic and phenotypic heterogeneity of obstructive sleep apnea using electronic health records.

ABSTRACT:

Background

Obstructive sleep apnea (OSA) is defined by frequent episodes of reduced or complete cessation of airflow during sleep and is linked to negative health outcomes. Understanding the genetic factors influencing expression of OSA may lead to new treatment strategies. Electronic health records (EHRs) can be leveraged to both validate previously reported OSA-associated genomic variation and detect novel relationships between these variants and comorbidities.

Methods

We identified candidate single nucleotide polymorphisms (SNPs) via systematic literature review of existing research. Using datasets available at Geisinger (n = 39,407) and Vanderbilt University Medical Center (n = 24,084), we evaluated associations between 40 previously implicated SNPs and OSA diagnosis, de

SUBMITTER: Veatch OJ 

PROVIDER: S-EPMC7382070 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature