TABLE 1.
Effect of genetic variations, age, and gender on UGT2B17 protein abundance and activity
Glucuronide Formation Activity (pmol/min per mg of Microsomal Protein) |
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Protein Abundance (pmol/mg of Microsomal Protein) |
T-Glucuronide |
DHT-Glucuronide |
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n | Mean | Median | Range (Min–Max, Fold Difference) | No. of <LOD Samples | n | Mean | Median | Range (Min-Max, Fold Difference) | n | Mean | Median | Range (Min–Max, Fold Difference) | |
All samplesa | 370 | 0.92 | 0.06 | 0.06–9.7, 162 | 202 | 325 | 15.4 | 6.4 | 0.3–184, 558 | 325 | 41.8 | 26.2 | 1.0–233, 233 |
CN = 0 | 53 | 0 | 0 | — | — | 46 | 5.8 | 3.7 | 0.6–20.5, 34 | 46 | 27.8 | 21.2 | 2.6–90.2, 35 |
CN = 1 | 172 | 0.67 | 0.06 | 0.06–6.5, 108 | 107 | 133 | 13.8 | 6.2 | 0.3–73.6, 223 | 133 | 40.8 | 27.4 | 1.0–165, 165 |
CN = 2 | 198 | 1.14 | 0.19 | 0.06–9.7, 162 | 95 | 146 | 19.9 | 7.8 | 0.5–184, 368 | 146 | 47 | 29.5 | 1.5–233, 155 |
Diplotypes | |||||||||||||
Reference CAGA/CAGA | 131 | 0.57 | 0.06 | 0.06–7.9, 132 | 94 | 91 | 13.8 | 5.7 | 0.5–123, 246 | 91 | 38.7 | 25.3 | 2.1–181.4, 86.4 |
Heterozygous TCAA/CAGG | 62 | 1.59 | 1.04 | 0.06–6.02, 100 | 15 | 35 | 27.5 | 21.4 | 0.5–98.2, 196 | 35 | 63.4 | 58.8 | 1.5–160, 107 |
Homozygous TCAG/TCAG | 58 | 1.63 | 1.03 | 0.06–9.7, 162 | 11 | 31 | 30.3 | 23.2 | 1.9–184, 96.8 | 31 | 66 | 57 | 8.3–233, 28 |
Age categories | |||||||||||||
Neonatal | 3 | 0.06 | 0.06 | 0.06–0.06 | 3 | 3 | 1.1 | 0.94 | 0.4–2.0, 5 | 3 | 4.8 | 3.8 | 1.6–9.0, 5.6 |
Infancy | 23 | 0.11 | 0.06 | 0.06–0.86, 14.3 | 20 | 19 | 3.3 | 1.3 | 0.4–11.5, 29 | 19 | 14.1 | 6.2 | 1.0–55.1, 55.1 |
Early childhood | 38 | 0.13 | 0.06 | 0.06–1.19, 21 | 34 | 29 | 6.6 | 3.7 | 0.3–33.1, 110 | 29 | 24.8 | 17.0 | 1.0–101, 101 |
Middle childhood | 44 | 0.15 | 0.06 | 0.06–1.49, 24.8 | 34 | 35 | 6.0 | 3.7 | 0.7–38.9, 56 | 35 | 25.0 | 16.9 | 2.6–116, 44.6 |
Adolescence | 61 | 0.81 | 0.06 | 0.06–6.9, 115 | 33 | 54 | 18.8 | 7.9 | 0.5–131.3, 263 | 54 | 48.5 | 32.1 | 2.1–194, 92 |
Adulthood | 185 | 1.33 | 0.46 | 0.06–9.7, 162 | 76 | 127 | 23.2 | 12.6 | 0.8–185.8, 232 | 127 | 56.3 | 47.4 | 3.0–235, 78.3 |
Gender (age 12 yr) | |||||||||||||
Male | 149 | 1.60 | 0.91 | 0.06–9.7, 162 | 60 | 108 | 26.9 | 18.1 | 0.5–184, 368 | 108 | 60.3 | 47.6 | 2.1–232, 110 |
Female | 96 | 0.57 | 0.06 | 0.06–5.5, 92 | 49 | 73 | 13.9 | 9.2 | 0.79–98, 124 | 73 | 43.3 | 36.2 | 2.9–160, 55 |
The samples with zero copy number were excluded from the analysis in all categories except the second row. Thirty-two samples (of 455) were excluded from these analyses because copy number (CN) variation data were not available on these samples.