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

Table 3 Associations between Obstructive Sleep Apnea Candidate SNPs and Other EHR-derived Clinical Traits

SNP	Chr	Closest Gene	EHR-Derived Trait	Effect Allele	Geisinger (EA)		VUMC (EA)	VUMC (AA)
SNP	Chr	Closest Gene	EHR-Derived Trait	Effect Allele	β (SE)	q-value	β (SE)	q-value	β (SE)	q-value
rs2187668	6p21.32	HLA	Celiac Disease	T^a	1.62 (0.12)	5.80 × 10⁻³⁸	1.15 (0.34)	2.83 × 10⁻³	Non-varying phenotype/genotype^c
rs2187668	6p21.32	HLA	Hypothyroidism NOS	T^a	0.15 (0.03)	7.67 × 10⁻⁴	0.22 (0.08)	1.13 × 10⁻²	0.44 (0.24)	3.10 × 10⁻¹
rs429358	19q13.32	APOE	Hyperlipidemia	C	0.26 (0.03)	7.57 × 10⁻²⁰	0.16 (0.04)	3.86 × 10⁻⁴	0.36 (0.11)	4.69 × 10⁻³
			HDL-Cholesterol^b		−1.51 (0.15)	8.80 × 10^− 19	−5.95 (1.35)	1.82 × 10⁻⁴	−2.21 (2.62)	5.59 × 10^− 1
			Mixed hyperlipidemia		0.17 (0.04)	3.97 × 10⁻³	0.20 (0.05)	1.93 × 10⁻⁴	0.39 (0.11)	4.69 × 10⁻³
rs7412	19q13.32		Hyperlipidemia	T	−0.46 (0.03)	9.88 × 10⁻⁴⁶	−0.21 (0.06)	1.01 × 10⁻³	− 0.22 (0.14)	3.42 × 10⁻¹

Shown are phenome-wide association test results where presence of the clinical code for the respective disorder on ≥3 different dates in the EHR was associated with the OSA candidate SNP at FDR-corrected q < 5.0 × 10⁻² in the Geisinger dataset, and replicated in the Vanderbilt University Medical Center European American (EA) dataset. ^aLiterature-reported effect allele located on the negative strand. ^bIndicates an association with the median laboratory value for this measure in serum or plasma. ^cIndicates test could not be conducted due to non-varying phenotype or genotype in either cases or controls. Abbreviations: SNP Single nucleotide polymorphism, Chr Chromosome, EHR Electronic health record, SE Standard error, AA African American, NOS Not otherwise specified, HDL High-density lipoprotein. All SNPs evaluated in EHR-based datasets are mapped to the positive strand. See Table S7 for more details

ISSN: 1755-8794