TABLE 2.
SNP ALLELE AND GENOTYPE FREQUENCIES IN THE SEVERE TBI POPULATION
| SNP | Homozygous Major | Heterozygous | Homozygous Minor | Major Allele | Minor Allele | |
|---|---|---|---|---|---|---|
|
| ||||||
| rs2283261 | Total Frequency (%) | 137 (35.6%) | 194 (50.4%) | 54 (14%) | 331 (86%) | 248 (64.4%) |
| A=major C= minor |
• Average ICP, Mean (SD) | 10.0 (3.1) | 9.6 (3.6) | 13.5 (9.2) | 9.8 (3.4) | 24.5 (11.0) |
| • Peak ICP, Mean (SD) | 27.0 (13.0) | 23.1 (9.4) | 32.8 (18.8) | 10.5 (5.7) | 25.4 (12.9) | |
| • Acute CT Edema* Frequency Y (%) | 53 (47.3%) | 64 (36.8%) | 29 (63%) | 117 (40.9) | 93 (42.3) | |
| • Decompressive Surgery Frequency Y (%) | 45 (32.9%) | 65 (33.5) | 18 (33.5%) | 110 (33.2) | 83 (33.5) | |
|
| ||||||
| rs3819521 | Total Frequency (%) | 164 (42.6) | 181 (47.0) | 40 (10.4) | 345 (89.6) | 221 (57.4) |
| C= major T= minor |
• Average ICP, Mean (SD) | 10.3 (3.2) | 9.7 (5.1) | 13.4 (7.8) | 9.9 (4.32) | 10.5 (5.9) |
| • Peak ICP, Mean (SD) | 27.2 (12.4) | 22.9 (10.7) | 33.1 (18.5) | 24.9 (11.7) | 25.0 (13.3) | |
| • Acute CT Edema* Frequency Y (%) | 67 (48.6) | 58 (36.2) | 21 (63.6) | 125 (41.8) | 79 (40.7) | |
| • Decompressive Surgery Frequency Y (%) | 58 (35.4) | 58 (35.4) | 12 (30.0) | 116 (33.6) | 70 (31.7) | |
|
| ||||||
| rs2283258 | Total Frequency (%) | 184 (47.8) | 171 (44.4) | 20 (7.8) | 355 (92.2) | 201 (52.2) |
| G=major A=minor |
• Average ICP, Mean (SD) | 10.2 (3.3) | 9.9 (5.5) | 13.9 (7.5) | 10.0 (4.5) | 10.6 |
| • Peak ICP, Mean (SD) | 26.6 (12.3) | 23.7 (12.2) | 33.0 (16.9) | 25.2 (12.3) | 25.3 (13.4) | |
| • Acute CT Edema*v Frequency Y (%) | 72 (46.8) | 56 (36.8) | 18 (69.2) | 128 (41.8) | 74 (41.6) | |
| • Decompressive Surgery Frequency Y (%) | 61 (33.2) | 57 (33.3) | 10 (33.3) | 118 (33.2) | 67 (33.3) | |
|
| ||||||
| rs1799857 | Total Frequency (%) | 124 (32.2) | 189 (49.1) | 72 (18.7) | 313 (81.3) | 261 (67.8) |
| G=major A=minor |
• Average ICP, Mean (SD) | 10.9 (5.6) | 10.2 (5.0) | 9.7 (3.2) | 10.5 (5.3) | 10.1 (4.6) |
| • Peak ICP, Mean (SD) | 27.2 (14.0) | 25.1 (13.1) | 25.4 (10.0) | 26.0 (10) | 25.1 (12.3) | |
| • Acute CT Edema* Frequency Y (%) | 40 (37.4) | 76 (46.9) | 30 (47.6) | 116 (43.1) | 106 (47.1) | |
| • Decompressive Surgery Frequency Y (%) | 28 (22.6) | 72 (38.1) | 28 (38.9) | 100 (32.0) | 100 (38.3) | |
Table 2 summarizes the relative frequencies of the SNP genotypes and alleles in the TBI population, as well as for the various measures of cerebral edema. For example, row 1 evaluates rs2283261. 35.6% of the TBI population were wild-type (homozygous-major), 50.4% were heterozygotes, and 14% were homozygous for the variant SNP. Focusing on the homozygous major genotype (AA) for rs2283261, in patients with this genotype, acute CT edema occured in 47.3%, the mean ICP was 10.0 ± 3.1 mmHg, peak ICP was 27.0 ±13.0, and decompressive craniotomies were performed 32.9% of the patients. In contrast, the TBI sample contained 14% of patients with homozygous minor genotype of the rs2283261 SNP (CC) in. In these patients (CC), acute CT edema occured in a higher percentage (63%) of patients, mean and peak ICP was also higher 13.5 ±9.2 and 32.8 ±g18.8.
CT edema data were available for 332 patients of the total 385.