Chen Xiheng, Gui Siming, Wei Dachao, Deng Dingwei, Tang Yudi, Lv Jian, You Wei, Jiang Jia, Lin Jun, Ge Huijian, Liu Peng, Jiang Yuhua, Ma Lixin, Wang Yunci, Lv Ming, Li Youxiang
Department of Neurosurgery, Beijing Chaoyang Hospital, Capital Medical University, Beijing, China.
Department of Interventional Neuroradiology, Beijing Neurosurgical Institute, Capital Medical University, Beijing, China.
J Stroke. 2025 May;27(2):237-249. doi: 10.5853/jos.2024.04098. Epub 2025 May 31.
Ruptured intracranial aneurysms (RIA) are associated with a mortality rate of up to 40% in the Chinese population, highlighting the critical need for targeted treatment interventions for at-risk individuals. Although the impact of aldehyde dehydrogenase 2 (ALDH2) gene mutations on susceptibility to intracranial aneurysms (IA) is well documented, the potential connection between ALDH2 rs671 single-nucleotide polymorphism (SNP) and RIA remains unexplored. Given the increased prevalence of ALDH2 gene mutations among Chinese Han individuals, it is clinically relevant to investigate the link between ALDH2 rs671 SNP and IA rupture.
A prospective study was conducted on 546 patients diagnosed with IA to investigate the association between ALDH2 rs671 SNP and the risk of IA rupture.
The ALDH2 rs671 SNP (ALDH22) was significantly more prevalent in patients with unruptured IA (UIA) than in those with RIA (32.56% vs. 18.58%, P=0.004). Multivariate logistic regression analysis revealed that people with the ALDH2 mutation (ALDH21/2 and ALDH22/*2 gene type) had a significantly reduced odds ratio (OR=0.49; 95% confidence level [CI] 0.27-0.88; P=0.018) for RIAs. Age-specific subgroup analysis indicated that the ALDH2 mutation provided a stronger protective effect in individuals aged 60 years and above with IA compared to those under 60 years old (OR=0.38 vs. OR=0.52, both P<0.05).
The incidence of RIA was significantly higher in individuals with a normal ALDH2 gene (ALDH2*1/1) than in those with an ALDH2 rs671 SNP (ALDH21/2 or ALDH22/*2). ALDH2 rs671 SNP may serve as a protective factor against RIA in the Chinese Han population.
在中国人群中,破裂性颅内动脉瘤(RIA)的死亡率高达40%,这凸显了对高危个体进行针对性治疗干预的迫切需求。虽然醛脱氢酶2(ALDH2)基因突变对颅内动脉瘤(IA)易感性的影响已有充分记录,但ALDH2 rs671单核苷酸多态性(SNP)与RIA之间的潜在联系仍未得到探索。鉴于中国汉族个体中ALDH2基因突变的患病率增加,研究ALDH2 rs671 SNP与IA破裂之间的联系具有临床相关性。
对546例诊断为IA的患者进行前瞻性研究,以调查ALDH2 rs671 SNP与IA破裂风险之间的关联。
未破裂IA(UIA)患者中ALDH2 rs671 SNP(ALDH22)的患病率显著高于RIA患者(32.56%对18.58%,P = 0.004)。多因素逻辑回归分析显示,携带ALDH2突变(ALDH21/2和ALDH22/*2基因类型)的人发生RIA的比值比(OR)显著降低(OR = 0.49;95%置信区间[CI] 0.27 - 0.88;P = 0.018)。年龄特异性亚组分析表明,与60岁以下的IA患者相比,ALDH2突变对60岁及以上的IA患者具有更强的保护作用(OR = 0.38对OR = 0.52,均P < 0.05)。
ALDH2基因正常(ALDH2*1/1)的个体发生RIA的发生率显著高于携带ALDH2 rs671 SNP(ALDH21/2或ALDH22/*2)的个体。ALDH2 rs671 SNP可能是中国汉族人群中RIA的一个保护因素。