APOE的遗传变异ε2和ε4可独立预测中国汉族人群自发性脑内出血的死亡率和不良预后。

IF 1.6 3区 医学 Q3 GENETICS & HEREDITY American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Pub Date : 2024-10-06 DOI:10.1002/ajmg.b.33010
Chuyue Wu, Qinji Zhou, Yu Huang, Fei Yan, Zhenjie Yang, Lei He, Qian Li, Li Li
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引用次数: 0

摘要

脑内出血(ICH)后死亡率和致残率升高,加上神经功能恢复受限,引发了人们对其治疗和结果的极大关注。与此同时,APOE 基因对 ICH 预后的影响也已得到充分证实。本研究旨在探讨本研究队列中特定 APOE 等位基因与 ICH 患者死亡率、复发率和不良预后发生率之间的关系,并通过神经功能评估加以确定。我们收集了 2021 年 10 月至 2022 年 3 月期间本院神经内科确诊为 ICH 并住院的患者数据,包括确定他们的 APOE 基因型。随访1年,评估死亡率、ICH复发情况以及3个月和12个月时的改良Rankin量表(mRS)评分。预后不良的定义是 mRS 评分≥ 3。我们首先分析了不同 APOE 等位基因与死亡率、复发和预后不良之间的关系。随后,我们探讨了影响每种预后结果的其他因素,并进行了多变量分析,以确定独立的风险因素。我们对 289 例确诊为 ICH 的患者进行了分析。结果发现,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])不利预后的重要独立预测因素。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])以及 3 个月内死亡率(p = 0.037,OR = 4.250,95% CI [4.068,4.920])和 1 年内死亡率(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变异均可独立增加ICH后的死亡风险、复发和不良预后。这种重大影响突出表明,有必要进一步研究 APOE 基因型对 ICH 预后的影响。
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Genetic Variants ε2 and ε4 of APOE Predict Mortality and Poor Outcome Independently in Spontaneous Intracerebral Hemorrhage Within the Chinese Han Population.

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.

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来源期刊
CiteScore
5.90
自引率
7.10%
发文量
40
审稿时长
4-8 weeks
期刊介绍: Neuropsychiatric Genetics, Part B of the American Journal of Medical Genetics (AJMG) , provides a forum for experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders. It is a resource for novel genetics studies of the heritable nature of psychiatric and other nervous system disorders, characterized at the molecular, cellular or behavior levels. Neuropsychiatric Genetics publishes eight times per year.
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