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