Table 4.
Comparison of the reported and observed effect sizes of nominally replicated candidate SNP associations.
| SNP | Gene | Subgroups | Alleles Lit. | Effect size Lit. (OR) | Phenotype Lit. | Allele study | Effect size study (beta) | Phenotype study | Effect direction consistency Lit. vs. study |
|---|---|---|---|---|---|---|---|---|---|
| rs11265269 | CRP | Recognition | C (T) | 1.82 | C/C | T (C)) | −0.217 | Suppl. Ox. | Consistent |
| −0.160 | Mech. Vent. | Consistent | |||||||
| −0.134 | BPD-trend test | Consistent | |||||||
| rs1427793 | NUAK1 | Cell adhesion | NA | NA | C/C | T (C) | −0.201 | Suppl. Ox. | NA |
| −0.137 | BPD-trend test | NA | |||||||
| rs2229569 | SELL | Cell adhesion | A (G) | 2.45 | C/C | G (A) | −0.196 | Mech. Vent. | Consistent |
| rs1883617 | VNN2 | Cell adhesion | A (G) | 1.21 | C/C | A (G) | 0.250 | Case/control | Consistent |
| 0.13 | BPD-trend test | Consistent | |||||||
| rs2542571 | ERLEC1 | Cellular processes | G (T) | 0.8 | C/C | G (T) | 0.230 | Case/control | Inconsistent |
| 0.102 | BPD-trend test | Inconsistent | |||||||
| rs2235587 | PSMF1 | Recognition | A (G) | 1.38 | C/C | A (G) | −0.191 | Mech. Vent. | Inconsistent |
| rs4148913 | CHST3 | Cell adhesion | G (A) | 0.79 | C/C | A (G) | 0.131 | Mech. Vent. | Consistent |
The reference allele is shown in parentheses. Inconsistent directions of effects were observed for the SNPs in PSMF1 and ERLEC. For NUAK1, no effect size information was reported, i.e., no comparison was possible. BPD-trend tests for an increasing or decreasing trend in allele frequency across the four groups no, mild, moderate, and severe BPD.
Lit. literature, NA effect direction not available in the original study, OR odds ratio, Mech. Vent. mechanical ventilation, Suppl. Ox. supplemental oxygen.