Table 5.
Replication results, SJLIFE cohort, N=688*.
| Gene | rs number | EAF | cases | controls | Allelic Fisher exact test | Logistic regression** | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| n.2 | n.1 | n.0 | n.2 | n.1 | n.0 | OR [95%CI] | P value | OR [95%CI] | LRT P value | |||
|
Trail making test
| ||||||||||||
|
All cohort, N= 675
*
| ||||||||||||
| AK8 | rs17407084 | 0.05 | 0 | 12 | 140 | 1 | 52 | 470 | 0.76 [0.36–1.45] | 0.45 | 0.75 [0.36–1.44] | 0.39 |
|
Males only, N= 337 | ||||||||||||
| ZNF382 | rs61732180 | 0.26 | 7 | 36 | 40 | 14 | 94 | 146 | 1.36 [0.90–2.04] | 0.13 | 1.40 [0.92– 2.15] | 0.12 |
|
Moderate-severe anxiety | ||||||||||||
|
All cohort, N= 675
*
| ||||||||||||
| PTPRZ1 | rs740965 | 0.15 | 2 | 20 | 45 | 13 | 150 | 445 | 1.29 [0.77–2.09] | 0.31 | 1.52 [0.90–2.50] | 0.11 |
| TNRC6C-AS1 | rs2748431 | 0.07 | 0 | 9 | 58 | 5 | 77 | 526 | 0.93 [0.40–1.92] | 1.00 | 0.86 [0.38–1.70] | 0.67 |
|
Males only, N= 340 | ||||||||||||
| APOL2 | rs7285167 | 0.08 | 0 | 2 | 32 | 0 | 52 | 254 | 0.33 [0.04–1.29] | 0.15 | 0.24 [0.04–0.94] | 0.040 |
| C6orf165 | rs61731441 | 0.1 | 1 | 3 | 30 | 1 | 61 | 244 | 0.69 [0.21–1.80] | 0.53 | 0.71 [0.23–1.83] | 0.50 |
|
Moderate-severe depression | ||||||||||||
|
Males only, N= 339
| ||||||||||||
| EXO5 | rs35672330 | 0.06 | 0 | 10 | 45 | 0 | 33 | 251 | 1.62 [0.69–3.50] | 0.20 | 2.18 [0.91–4.97] | 0.08 |
AK8: Adenylate Kinase 8; ZNF: Zinc Finger Protein 382; PTPRZ1: Protein Tyrosine Phosphatase Receptor Type Z1; TNRC6C-AS1: TNRC6C antisense RNA 1; APOL2: Apolipoprotein L2; C6orf165: Cilia And Flagella Associated Protein 206; EXO5: Exonuclease 5.
EAF: Effect allele frequency; n.2: 2 copies of the effect allele; n.1: 1 copy of the effect allele; n.0: 0 copies of the effect allele; OR: odds ratio for each additional copy of the effect allele; CI: confidence interval; LRT P value: Likelihood ratio test P value.
While the total replication SJLIFE cohort consisted of 688 participants, it’s noteworthy that when participants with non-missing data were selected for the Trail making test and Moderate-severe anxiety regressions, the number included happened to be identical, with 675 survivors in each analysis. However, these participants were not the exact same survivors in both analyses.
Logistic regression analyses adjusted for continuous age at diagnosis, sex, continuous time between date of becoming a 5-year ALL survivor and date of test measurement, whether the survivor was treated with chemotherapy only versus chemotherapy plus radiation, and the top 20 principal components adjusting for genetic ancestry.