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与肌萎缩侧索硬化症之间缺乏关联:一项病例对照研究。

Lack of Association between and Amyotrophic Lateral Sclerosis: A Case-Control Study.

机构信息

Department of Neurology, Laboratory of Neurogenetics, University Hospital of Larissa, Faculty of Medicine, University of Thessaly, 41100 Larissa, Greece.

B' Department of Neurology, AHEPA University Hospital, Aristotle University of Thessaloniki, 54636 Thessaloniki, Greece.

出版信息

J Integr Neurosci. 2023 Jul 26;22(4):106. doi: 10.31083/j.jin2204106.

Abstract

BACKGROUND

Microglial activation is considered to assume a role in the pathogenesis of Amyotrophic Lateral Sclerosis (ALS). To date, the relationship between ALS and the polymorphism of the cluster of differentiation 33 (CD33) has not been explored. The current report aimed to investigate the potential connection between and ALS.

METHODS

Patients diagnosed with sporadic ALS according to the revised El Escorial criteria, as well as age and sex matched community controls, were enrolled. Two evenly numbered, age and sex matched groups of 155 participants each were genotyped.

RESULTS

No association was found between and ALS [log-additive odds ratio (OR) = 0.83 (0.57, 1.22), over-dominant OR = 0.86 (0.55, 1.36), recessive OR = 0.73 (0.25, 2.17), dominant OR = 0.82 (0.52, 1.29), co-dominant OR1 = 0.68 (0.23, 2.05) and co-dominant OR2 = 0.84 (0.53, 1.33)]. Moreover, no relationship was established between rs3865444 and the age of ALS onset based on both unadjusted and sex adjusted Cox-proportional hazards models. Finally, no association between rs3865444 and ALS was found in subgroup analyses based on the site of ALS onset (bulbar or spinal) and sex.

CONCLUSIONS

The current analysis is the first to report that rs3865444 is not linked to ALS. Larger multi-racial studies are required to confirm these findings.

摘要

背景

小胶质细胞激活被认为在肌萎缩侧索硬化症(ALS)的发病机制中起作用。迄今为止,ALS 与分化群 33(CD33)多态性之间的关系尚未被探索。本报告旨在探讨 与 ALS 之间的潜在联系。

方法

根据修订后的埃尔埃斯克里尔标准诊断为散发性 ALS 的患者,以及年龄和性别匹配的社区对照者被纳入研究。对两组数量相等的、年龄和性别匹配的 155 名参与者进行基因分型。

结果

未发现 与 ALS 之间存在关联[对数加性优势比(OR)=0.83(0.57,1.22),过显性 OR=0.86(0.55,1.36),隐性 OR=0.73(0.25,2.17),显性 OR=0.82(0.52,1.29),共显性 OR1=0.68(0.23,2.05)和共显性 OR2=0.84(0.53,1.33)]。此外,基于未调整和性别调整的 Cox 比例风险模型,未发现 rs3865444 与 ALS 发病年龄之间存在关系。最后,基于 ALS 发病部位(延髓或脊髓)和性别进行亚组分析,未发现 rs3865444 与 ALS 之间存在关联。

结论

本分析首次报道 rs3865444 与 ALS 无关。需要更大的多种族研究来证实这些发现。

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