Skip to main content

Table 2 Validated Associations with Obstructive Sleep Apnea Diagnosis and Severity in European Americans

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

SNP

Chr

Closest Gene

EHR-Derived Trait

Effect Allele

Geisinger

VUMC

Meta-Analysis

β (SE)

p-value†

β (SE)

p-value†

β (SE)

p-value†

rs1137101

1p31.3

LEPR

OSA Diagnosis

G

− 0.05 (0.02)

3.78 × 10−2

0.03 (0.03)

2.96 × 10− 1

− 0.02 (0.02)‡

3.09 × 10− 1

WASO (mins)

−0.07 (0.02)

2.64 × 10−4

  

Sleep Efficiency (%)

0.06 (0.02)

2.28 × 10−3

  

Awakenings (#)

−0.05 (0.02)

9.40 × 10− 3

  

rs29230

6p22.1

GABBR1

OSA Diagnosis

G

0.05 (0.03)

8.42 × 10−2

0.09 (0.04)

3.65 × 10−2

0.06 (0.02)

8.44 × 10−3

WASO (mins)

0.08 (0.02)

1.72 × 10−3

  

rs3918242

20q13.12

MMP-9

OSA Diagnosis

T

0.07 (0.03)

2.65 × 10−2

−0.02 (0.04)

6.48 × 10−1

0.04 (0.03)

1.28 × 10−1

  1. Shown are results for literature-derived SNPs where OSA associations reported in populations of European ancestry validated for an association with electronic health record-derived OSA-related traits in European Americans. †p-values are unadjusted. ‡Indicates evidence for significant heterogeneity (p < 5.0 × 10−2). Abbreviations: SNP Single nucleotide polymorphism, Chr Chromosome, EHR Electronic health record, SE Standard error, OSA Obstructive Sleep Apnea, Resp Respiratory, WASO Wake After Sleep Onset, Mins Minutes. All SNPs evaluated in EHR-based datasets are mapped to the positive strand. More details and FDR-adjusted q-values for OSA diagnosis association tests are available in Table S4 and sleep study report variables tests in Table S6