Table 3.
Novel PheWAS findings in CCHMC/BCH pediatric cohorts.
| Description | Case/Control | Chr | SNP | Position | Gene | Minor allele | Case | Control | p value | p-permute | Case needed* | OR |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Allergic rhinitis | 408/2754 | 2 | rs1260326 | 27730940 | GCKR | T | 0.48 | 0.41 | 7.02E-05 | 1.21E-04 | 250 | 1.36 (1.17–1.58) |
| Allergic rhinitis | 408/2754 | 2 | rs780094 | 27741237 | GCKR | T | 0.47 | 0.40 | 2.94E-05 | 9.61E-05 | 250 | 1.38 (1.19–1.60) |
| Allergic rhinitis | 408/2754 | 2 | rs780093 | 27742603 | GCKR | T | 0.47 | 0.40 | 2.18E-05 | 8.06E-05 | 250 | 1.39 (1.19–1.61) |
| Allergic rhinitis | 408/2754 | 7 | rs864745 | 28180556 | JAZF1 | C | 0.43 | 0.50 | 9.02E-05 | 1.11E-04 | 220 | 0.76 (0.65–0.88) |
| Allergic rhinitis | 408/2754 | 7 | rs1635852 | 28189411 | JAZF1 | C | 0.43 | 0.50 | 6.58E-05 | 5.97E-05 | 220 | 0.75 (0.65–0.87) |
| Eosinophilic Esophagitis | 446/2586 | 5 | rs4143832 | 131862977 | IL5-IL13 | T | 0.24 | 0.18 | 4.70E-06 | 1.70E-05 | 200 | 1.55 (1.29–1.87) |
| Eosinophilic Esophagitis | 446/2586 | 5 | rs12653750 | 131971902 | IL5-IL13 | T | 0.28 | 0.19 | 3.03E-09 | 1.00E-06 | 100 | 1.73 (1.44–2.07) |
| Eosinophilic Esophagitis | 446/2586 | 5 | rs20541 | 131995964 | IL5-IL13 | A | 0.26 | 0.19 | 3.72E-07 | 3.00E-06 | 150 | 1.61 (1.34–1.94) |
| Mental retardation | 297/1840 | 5 | rs11167764 | 141479065 | NDFIP1 | A | 0.29 | 0.20 | 1.29E-06 | 4.00E-06 | 150 | 1.66 (1.35–2.04) |
| Mental retardation | 297/1840 | 5 | rs77110703 | 141479833 | NDFIP1 | T | 0.29 | 0.20 | 5.83E-07 | 2.00E-06 | 150 | 1.69 (1.38–2.08) |
| Mental retardation | 297/1840 | 5 | rs10057309 | 141479870 | NDFIP1 | T | 0.29 | 0.20 | 4.33E-07 | 2.00E-06 | 150 | 1.70 (1.39–2.09) |
| Developmental disorders | 975/1840 | 2 | rs1595825 | 198875464 | PLCL1 | A | 0.15 | 0.21 | 1.13E-08 | 2.00E-06 | 150 | 0.65 (0.57–0.76) |
| Supporative otitis media | 362/3082 | 1 | rs10801047 | 191559356 | near RGS1 | A | 0.13 | 0.08 | 1.61E-06 | 2.00E-06 | 250 | 1.77 (1.40–2.24) |
| Depression | 107/2864 | 14 | rs7141420 | 79899454 | NRXN3 | C | 0.66 | 0.46 | 4.76E-05 | 1.10E-04 | 100 | 1.78 (1.34–2.34) |
*
P (permute): empirical permutation p values after case and control labels are permuted randomly (up to 1,000,000). All results were at the level of FDR-q < 0.05.
**“Cases needed” refers to the estimated number of cases needed to achieve 80% power to detect an association at alpha = 0.05 given the identified odds ratio and the MAF in this population.