Severe traumatic brain injury (TBI) activates the apoptotic cascade in neurons and glia as part of secondary cellular injury. B-cell lymphoma 2 (Bcl-2) gene encodes a pro-survival protein to suppress programmed cell death, and variation in this gene has potential to affect intracranial pressure (ICP). Participants were recruited from a single clinical center using a prospective observational study design. Inclusion criteria were: age 16-80 years; Glasgow Coma Scale (GCS) score 4-8; and at least 24 h of ICP monitoring treated between 2000-2014. Outcomes were mean ICP, spikes >20 and >25 mm Hg, edema, and surgical intervention. Odds ratios (OR), mean increases/decreases (B), and 95% confidence intervals (CIs) were reported. In 264 patients, average age was 39.2 years old and 78% of patients were male. Mean ICPs were 11.4 ± 0.4 mm Hg for patients with homozygous wild-type (AA), 12.8 ± 0.6 mm Hg for heterozygous (AG), and 14.3 ± 1.2 mm Hg for homozygous variant (GG; p = 0.023). Rs17759659 GG genotype was associated with more ICP spikes >20 mm Hg (p = 0.017) and >25 mm Hg (p = 0.048). Multi-variate analysis showed that GG relative to AA genotype had higher ICP (B = 2.7 mm Hg, 95% CI [0.5,4.9], p = 0.015), edema (OR = 2.5 [1.0, 6.0], p = 0.049) and need for decompression (OR = 3.7 [1.5-9.3], p = 0.004). In this prospective severe TBI cohort, Bcl-2 rs17759659 was associated with increased risk of intracranial hypertension, cerebral edema, and need for surgical intervention. The variant allele may impact programmed cell death of injured neurons, resulting in elevated ICP and post-traumatic secondary insults. Further risk stratification and targeted genotype-based therapies could improve outcomes after severe TBI.

中文翻译：

---

B 细胞淋巴瘤 2 (Bcl-2) 基因与严重创伤性脑损伤后的颅内高压相关。


严重创伤性脑损伤 (TBI) 会激活神经元和神经胶质细胞中的凋亡级联，这是继发性细胞损伤的一部分。 B 细胞淋巴瘤 2 ( Bcl-2 ) 基因编码一种促生存蛋白来抑制程序性细胞死亡，该基因的变异有可能影响颅内压 (ICP)。参与者是使用前瞻性观察研究设计从单个临床中心招募的。纳入标准为：年龄16-80岁；格拉斯哥昏迷量表（GCS）评分 4-8； 2000 年至 2014 年间至少进行 24 小时的 ICP 监测。结果包括平均 ICP、峰值 >20 和 >25 mm Hg、水肿和手术干预。报告了比值比 (OR)、平均增加/减少 (B) 和 95% 置信区间 (CI)。 264名患者中，平均年龄为39.2岁，78%的患者为男性。纯合野生型 (AA) 患者的平均 ICP 为 11.4 ± 0.4 mm Hg，杂合子 (AG) 患者的平均 ICP 为 12.8 ± 0.6 mm Hg，纯合变异 (GG； p = 0.023) 的患者平均 ICP 为 14.3 ± 1.2 mm Hg。 Rs17759659 GG 基因型与更多 ICP 峰值 >20 mm Hg ( p = 0.017) 和 >25 mm Hg ( p = 0.048) 相关。多变量分析显示，GG 相对于 AA 基因型具有更高的 ICP（B = 2.7 mm Hg，95% CI [0.5,4.9]， p = 0.015）、水肿（OR = 2.5 [1.0，6.0]， p = 0.049）以及需要减压（OR = 3.7 [1.5-9.3]， p = 0.004）。在这个前瞻性严重 TBI 队列中， Bcl-2 rs17759659与颅内高压、脑水肿和需要手术干预的风险增加相关。变异等位基因可能会影响受损神经元的程序性细胞死亡，导致ICP升高和创伤后继发性损伤。 进一步的风险分层和基于基因型的靶向治疗可以改善严重 TBI 后的预后。