Wu Chuyue, Zhou Qinji, Huang Yu, Yan Fei, Yang Zhenjie, He Lei, Li Qian, Li Li
Department of Neurology, Chongqing University Three Gorges Hospital, Chongqing, China.
School of Medicine, Chongqing University, Chongqing, China.
Am J Med Genet B Neuropsychiatr Genet. 2025 Mar;198(2):e33010. doi: 10.1002/ajmg.b.33010. Epub 2024 Oct 6.
The heightened mortality and disability rates, coupled with restricted neurological recovery post intracerebral hemorrhage (ICH), have sparked considerable attention toward its treatment and results. Simultaneously, the influence of the APOE gene on ICH prognosis has been well-documented. This research aimed to explore the relationship between specific APOE alleles in the present cohort and the incidences of mortality, recurrence, and adverse prognosis, as determined by neurological function assessments in ICH patients. Data on patients diagnosed with ICH and hospitalized in the Department of Neurology at our institution from October 2021 to March 2022 were collected, including determining their APOE genotypes. A 1-year follow-up was conducted to evaluate mortality, ICH recurrence, and modified Rankin Scale (mRS) scores at 3 and 12 months. Poor prognosis was defined as an mRS score of ≥ 3. Initially, we analyzed the relationships between different APOE alleles and mortality, recurrence, and poor prognosis. Subsequently, we explored additional factors influencing each prognostic outcome and conducted multivariate analysis to identify independent risk factors. An analysis was conducted on 289 patients diagnosed with ICH. The presence of the ε2 allele was found to be a significant independent predictor for unfavorable outcomes at both 3 months (p = 0.022, OR = 2.138, 95% CI [2.041, 3.470]) and 1 year (p = 0.020, OR = 5.116, 95% CI [5.044, 5.307]). Moreover, the ε4 allele was established as an independent risk factor for ICH recurrence within 1 year (p = 0.025, OR = 2.326, 95% CI [1.163, 2.652]), as well as for mortality at 3 months (p = 0.037, OR = 4.250, 95% CI [4.068, 4.920]) and 1 year (p = 0.023, OR = 4.109, 95% CI [4.016, 4.739]). In conclusions, Both APOE ε2 and ε4 variants independently heighten mortality risk, recurrence, and poor prognosis after ICH. The substantial influence underscores the need for additional investigation into the impact of APOE genotype on ICH prognosis.
脑出血（ICH）后死亡率和残疾率的升高，加上神经功能恢复受限，引发了人们对其治疗和结果的广泛关注。同时，APOE基因对ICH预后的影响已有充分记录。本研究旨在探讨本队列中特定APOE等位基因与ICH患者死亡率、复发率及不良预后发生率之间的关系，这些预后情况通过神经功能评估来确定。收集了2021年10月至2022年3月在我院神经内科确诊并住院的ICH患者的数据，包括确定他们的APOE基因型。进行了为期1年的随访，以评估3个月和12个月时的死亡率、ICH复发情况以及改良Rankin量表（mRS）评分。预后不良定义为mRS评分≥3分。首先，我们分析了不同APOE等位基因与死亡率、复发率和不良预后之间的关系。随后，我们探讨了影响各预后结果的其他因素，并进行多变量分析以确定独立危险因素。对289例确诊为ICH的患者进行了分析。发现ε2等位基因的存在是3个月（p = 0.022，OR = 2.138，95%CI [2.041, 3.470]）和1年（p = 0.020，OR = 5.116，95%CI [5.044, 5.307]）时不良结局的显著独立预测因素。此外ε4等位基因被确定为1年内ICH复发（p = 0.025，OR = 2.326，95%CI [1.163, 2.652]）、3个月时死亡率（p = 0.037，OR = 4.250，95%CI [4.068, 4.920]）和1年时死亡率（p = 0.023，OR = 4.109，95%CI [4.016, 4.739]）的独立危险因素。总之，APOE ε2和ε4变异均独立增加ICH后的死亡风险、复发率和不良预后。这一重大影响凸显了进一步研究APOE基因型对ICH预后影响的必要性。
