Table 4.
Associations Between Presence of Telomere Variants and Baseline Laboratory Values
| Laboratory Test | Variant Type | N (% All Patients) | Estimate* | 95% CI | P Value† | |
|---|---|---|---|---|---|---|
| In Model | With ≥1 Variant | |||||
| WBC count | Any | 86 (100) | 68 (79) | ‒0.17 | ‒0.40, 0.16 | 0.28 |
| Exonic missense | 86 (100) | 24 (28) | 0.06 | ‒0.22, 0.44 | 0.72 | |
| Likely deleterious | 86 (100) | 17 (20) | 0.22 | ‒0.12, 0.70 | 0.24 | |
| Any RTEL1 | 86 (100) | 30 (35) | ‒0.29 | ‒0.46, ‒0.07 | 0.01 | |
| Exonic missense RTEL1 | 86 (100) | 11 (13) | ‒0.30 | ‒0.54, 0.04 | 0.08 | |
| Likely deleterious RTEL1 | 86 (100) | 7 (8) | ‒0.15 | ‒0.49, 0.42 | 0.53 | |
| Absolute neutrophil count | Any | 86 (100) | 68 (79) | ‒0.24 | ‒0.49, 0.12 | 0.17 |
| Exonic missense | 86 (100) | 24 (28) | 0.11 | ‒0.23, 0.60 | 0.56 | |
| Likely deleterious | 86 (100) | 17 (20) | 0.36 | ‒0.08, 1.00 | 0.12 | |
| Any RTEL1 | 86 (100) | 30 (35) | ‒0.26 | ‒0.47, 0.03 | 0.07 | |
| Exonic missense RTEL1 | 86 (100) | 11 (13) | ‒0.30 | ‒0.56, 0.14 | 0.15 | |
| Likely deleterious RTEL1 | 86 (100) | 7 (8) | ‒0.03 | ‒0.47, 0.77 | 0.93 | |
| Hemoglobin | Any | 86 (100) | 68 (79) | ‒0.02 | ‒0.16, 0.14 | 0.79 |
| Exonic missense | 86 (100) | 24 (28) | ‒0.10 | ‒0.22, 0.03 | 0.12 | |
| Likely deleterious | 86 (100) | 17 (20) | ‒0.01 | ‒0.15, 0.15 | 0.89 | |
| Any RTEL1 | 86 (100) | 30 (35) | ‒0.12 | ‒0.22, 0.00 | 0.05 | |
| Exonic missense RTEL1 | 86 (100) | 11 (13) | ‒0.13 | ‒0.27, 0.05 | 0.15 | |
| Likely deleterious RTEL1 | 86 (100) | 7 (8) | 0.05 | ‒0.17, 0.32 | 0.67 | |
| Platelets | Any | 86 (100) | 68 (79) | ‒0.18 | ‒0.46, 0.24 | 0.34 |
| Exonic missense | 86 (100) | 24 (28) | ‒0.03 | ‒0.33, 0.43 | 0.89 | |
| Likely deleterious | 86 (100) | 17 (20) | 0.04 | ‒0.31, 0.57 | 0.84 | |
| Any RTEL1 | 86 (100) | 30 (35) | ‒0.22 | ‒0.45, 0.10 | 0.16 | |
| Exonic missense RTEL1 | 86 (100) | 11 (13) | ‒0.42 | ‒0.65, ‒0.05 | 0.03 | |
| Likely deleterious RTEL1 | 86 (100) | 7 (8) | ‒0.29 | ‒0.62, 0.32 | 0.28 | |
| Creatinine | Any | 86 (100) | 68 (79) | ‒0.02 | ‒0.32, 0.41 | 0.90 |
| Exonic missense | 86 (100) | 24 (28) | 0.22 | ‒0.12, 0.71 | 0.23 | |
| Likely deleterious | 86 (100) | 17 (20) | 0.08 | ‒0.25, 0.56 | 0.66 | |
| Any RTEL1 | 86 (100) | 30 (35) | 0.15 | ‒0.16, 0.56 | 0.38 | |
| Exonic missense RTEL1 | 86 (100) | 11 (13) | 0.24 | ‒0.21, 0.94 | 0.34 | |
| Likely deleterious RTEL1 | 86 (100) | 7 (8) | 0.14 | ‒0.34, 0.99 | 0.63 | |
| Total bilirubin | Any | 86 (100) | 68 (79) | ‒0.33 | ‒0.64, 0.26 | 0.21 |
| Exonic missense | 86 (100) | 24 (28) | 0.08 | ‒0.40, 0.94 | 0.79 | |
| Likely deleterious | 86 (100) | 17 (20) | ‒0.04 | ‒0.49, 0.81 | 0.89 | |
| Any RTEL1 | 86 (100) | 30 (35) | ‒0.36 | ‒0.62, 0.09 | 0.10 | |
| Exonic missense RTEL1 | 86 (100) | 11 (13) | 0.32 | ‒0.40, 1.87 | 0.48 | |
| Likely deleterious RTEL1 | 86 (100) | 7 (8) | ‒0.19 | ‒0.69, 1.13 | 0.67 | |
| International normalized ratio | Any | 82 (95) | 64 (74) | ‒0.12 | ‒0.27, 0.05 | 0.16 |
| Exonic missense | 82 (95) | 22 (26) | ‒0.07 | ‒0.22, 0.11 | 0.44 | |
| Likely deleterious | 82 (95) | 15 (17) | ‒0.09 | ‒0.25, 0.10 | 0.33 | |
| Any RTEL1 | 82 (95) | 28 (33) | ‒0.15 | ‒0.27, 0.00 | 0.05 | |
| Exonic missense RTEL1 | 82 (95) | 10 (12) | 0.02 | ‒0.20, 0.29 | 0.90 | |
| Likely deleterious RTEL1 | 82 (95) | 6 (7) | ‒0.01 | ‒0.27, 0.34 | 0.95 | |
All models are adjusted for age at sample, ethnicity/race (Hispanic/non‐Hispanic white/other), diagnosis (ETOH/HBV or HCV/other), and sex (female/male).
*
The corresponding regression coefficient was exponentiated, and the presented estimate should be interpreted as the percent change in the expected geometric mean of the laboratory value when at least one mutation is present.
†
Bolded associations had a P value <0.05, but were not statistically significant after Bonferroni correction for multiple comparisons.