Aldehyde Dehydrogenase 2 Gene Mutation May Reduce the Risk of Rupture of Intracranial Aneurysm in Chinese Han Population.

IF 6 1区 医学 Q1 CLINICAL NEUROLOGY
Journal of Stroke Pub Date : 2025-05-01 Epub Date: 2025-05-31 DOI:10.5853/jos.2024.04098
Xiheng Chen, Siming Gui, Dachao Wei, Dingwei Deng, Yudi Tang, Jian Lv, Wei You, Jia Jiang, Jun Lin, Huijian Ge, Peng Liu, Yuhua Jiang, Lixin Ma, Yunci Wang, Ming Lv, Youxiang Li
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Abstract

Background and purpose: 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.

Methods: 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.

Results: The ALDH2 rs671 SNP (ALDH2*2) 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 (ALDH2*1/*2 and ALDH2*2/*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).

Conclusion: 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 (ALDH2*1/*2 or ALDH2*2/*2). ALDH2 rs671 SNP may serve as a protective factor against RIA in the Chinese Han population.

醛脱氢酶2基因突变可能降低中国汉族颅内动脉瘤破裂的风险。
背景与目的:颅内动脉瘤破裂(RIA)与中国人群高达40%的死亡率相关,强调了对高危人群进行针对性治疗干预的迫切需要。尽管醛脱氢酶2 (ALDH2)基因突变对颅内动脉瘤(IA)易感性的影响已有文献记录,但ALDH2 rs671单核苷酸多态性(SNP)与RIA之间的潜在联系仍未被探索。鉴于ALDH2基因突变在中国汉族人群中的患病率增加,研究ALDH2 rs671 SNP与IA破裂之间的关系具有临床意义。方法:对546例诊断为IA的患者进行前瞻性研究,探讨ALDH2 rs671 SNP与IA破裂风险的关系。结果:ALDH2 rs671 SNP (ALDH2*2)在未破裂性IA (UIA)患者中的发生率明显高于RIA (32.56% vs. 18.58%, P=0.004)。多因素logistic回归分析显示,ALDH2突变(ALDH2*1/*2和ALDH2*2/*2基因型)人群的优势比显著降低(OR=0.49;95%置信水平[CI] 0.27-0.88;P=0.018)。年龄特异性亚组分析显示,ALDH2突变对60岁及以上IA患者的保护作用强于60岁以下患者(OR=0.38 vs. OR=0.52)。结论:ALDH2基因正常(ALDH2*1/*1)个体的RIA发病率明显高于ALDH2 rs671 SNP (ALDH2*1/*2或ALDH2*2/*2)个体。ALDH2 rs671 SNP可能是中国汉族人群抗RIA的保护因子。
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来源期刊
Journal of Stroke
Journal of Stroke CLINICAL NEUROLOGYPERIPHERAL VASCULAR DISE-PERIPHERAL VASCULAR DISEASE
CiteScore
11.00
自引率
3.70%
发文量
52
审稿时长
12 weeks
期刊介绍: The Journal of Stroke (JoS) is a peer-reviewed publication that focuses on clinical and basic investigation of cerebral circulation and associated diseases in stroke-related fields. Its aim is to enhance patient management, education, clinical or experimental research, and professionalism. The journal covers various areas of stroke research, including pathophysiology, risk factors, symptomatology, imaging, treatment, and rehabilitation. Basic science research is included when it provides clinically relevant information. The JoS is particularly interested in studies that highlight characteristics of stroke in the Asian population, as they are underrepresented in the literature. The JoS had an impact factor of 8.2 in 2022 and aims to provide high-quality research papers to readers while maintaining a strong reputation. It is published three times a year, on the last day of January, May, and September. The online version of the journal is considered the main version as it includes all available content. Supplementary issues are occasionally published. The journal is indexed in various databases, including SCI(E), Pubmed, PubMed Central, Scopus, KoreaMed, Komci, Synapse, Science Central, Google Scholar, and DOI/Crossref. It is also the official journal of the Korean Stroke Society since 1999, with the abbreviated title J Stroke.
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