Association between SORL1 polymorphisms and the risk of Alzheimer’s disease

Cong, Lele; Kong, Xiangyi; Wang, Jing; Du, Jianshi; Xu, Zhi-Hong; Xu, Yanan; Zhao, Qing

doi:10.31083/jin-170051

J. Integr. Neurosci.

2018

DOI: 10.31083/jin-170051

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Association between SORL1 polymorphisms and the risk of Alzheimer’s disease

Lele Cong

Xiangyi Kong

Jing Wang

et al.

Abstract: A meta-analysis was performed to identify empirical data assessing the effects of a single nucleotide polymorphisms of sortilinrelated receptor on Alzheimer's disease based on 14 studies involving 37941 cases and 49727 control studies. Analysis showed, (i) Increased risk between the single nucleotide polymorphisms (rs641120, rs1010159) and Alzheimer's disease susceptibility in Asian populations, (ii) Single nucleotide polymorphism rs689021 was associated with decreased risk in Caucasians, and (iii) Single nucl… Show more

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Cited by 5 publications

References 40 publications

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Early-onset Alzheimer's disease may be associated with sortilin-related receptor 1 gene mutation: A family report and review

Zhu

Qiu

2021

Radiology Case Reports

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Background : Early-onset Alzheimer's disease is a rare condition that differs from the usual memory-disordered presentation of typical Alzheimer's disease. Early-onset Alzheimer's disease is believed to have a genetic basis, and sporadic Alzheimer's disease has been associated with sortilin-related receptor 1 polymorphism. Case presentation : This report describes and discusses the family report of a 59-year-old patient with early-onset Alzheimer's disease that may have been associated with a sortilin-related receptor 1 gene mutation. The patient was hospitalized in August 2008 for gradually progressive amnesia. Brain magnetic resonance imaging showed that the patient presented with whole-brain atrophy (especially in the bilateral medial temporal lobe and hippocampus). He had an initial Mini-Mental State Examination score of 15 (time orientation: 4/5; place orientation: 4/5; language immediate memory: 2/3; attention and calculation: 1/5; delayed memory: 0/3; naming: 1/2; language retelling, understanding, and expression: 3/6; visuospatial ability: 0/1). Whole-exome sequencing showed a sortilin-related receptor 1 gene mutation, c.3575G>A (chr11:121448104), which was detected in the patient and his children. Discussion : Patients with early-onset Alzheimer's disease present with obvious deficits in language, visuospatial abilities, praxis, or other nonmemory cognitive functions. In this case, the speech, memory, and visuospatial impairment of the patient may be associated with the sortilin-related receptor 1 gene mutation. Atrophy of the bilateral medial temporal lobe/hippocampus on magnetic resonance imaging may be an important marker of early-onset Alzheimer's disease. A sortilin-related receptor 1 gene mutation, c.3575G>A (chr11:121448104), may increase the risk of Alzheimer's disease.

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Early-onset Alzheimer's disease may be associated with sortilin-related receptor 1 gene mutation: A family report and review

Zhu

Qiu

2021

Radiology Case Reports

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HSPA12A targets the cytoplasmic domain and affects the trafficking of the Amyloid Precursor Protein receptor SorLA

Madsen

Isaksen

Siupka

et al. 2019

Sci Rep

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SorLA and Sortilin are multifunctional receptors involved in endocytosis and intracellular sorting of different and unrelated ligands. SorLA has recently attracted much attention as a novel strong risk gene for Alzheimer’s disease, and much effort is currently being put into understanding the underlying molecular mechanism. Trafficking of SorLA and Sortilin are mediated by interacting with AP-1, AP-2, GGA 1-3 and the retromer complex. Although these cytosolic adaptor proteins all bind to both SorLA and Sortilin, a large fraction of intracellular Sortilin and SorLA are located in different subcellular vesicles. This indicates that unknown specialised adaptor proteins targeting SorLA for trafficking are yet to be discovered. We have identified HSPA12A as a new adaptor protein that, among Vps10p-D receptors, selectively binds to SorLA in an ADP/ATP dependent manner. This is the first described substrate of HSPA12A, and we demonstrate that the binding, which affects both endocytic speed and subcellular localisation of SorLA, is mediated by specific acidic residues in the cytosolic domain of SorLA. The identification of the relatively unknown HSPA12A as a SorLA specific interaction partner could lead to novel insight into the molecular mechanism of SorLA, and re-emphasises the role of heat shock proteins in neurodegenerative diseases.

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Associations between Certain Polymorphisms in Proinflammatory Cytokines and Predisposition of Alzheimer’s Disease: A Meta-Analysis

Zhang

Yang

Zhang

et al. 2021

Dement Geriatr Cogn Disord

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Background: Functional gene polymorphisms of proinflammatory cytokines such as tumor necrosis factor-α (TNF-α), interleukin-6 (IL-6), interleukin-8 (IL-8), and interleukin-18 (IL-18) may contribute to the onset and development of Alzheimer’s disease (AD), but the relationships between these polymorphisms and predisposition of AD remain controversial. Objectives: This meta-analysis was conducted to more robustly assess relationships between TNF-α/IL-6/IL-8/IL-18 polymorphisms and predisposition of AD by pooling the findings of relevant studies. Methods: A comprehensive literature searching was performed in PubMed, Embase, Web of Science, Wanfang, and CNKI databases, and 63 studies were found to be eligible for quantitative analyses. Results: The pooled meta-analysis results showed that genotypic frequencies of TNF-α rs1800629, IL-6 rs1800795, IL-8 rs4073, and IL-18 rs187238 polymorphisms among AD cases and controls of Asian ethnicity differed significantly. But, we did not observe such genotypic frequencies differences in Caucasians. Conclusions: This meta-analysis suggests that TNF-α rs1800629, IL-6 rs1800795, IL-8 rs4073, and IL-18 rs187238 polymorphisms may affect predisposition of AD in Asians, but not in Caucasians.

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Association between SORL1 polymorphisms and the risk of Alzheimer’s disease

Cited by 5 publications

References 40 publications

Early-onset Alzheimer's disease may be associated with sortilin-related receptor 1 gene mutation: A family report and review

Early-onset Alzheimer's disease may be associated with sortilin-related receptor 1 gene mutation: A family report and review

HSPA12A targets the cytoplasmic domain and affects the trafficking of the Amyloid Precursor Protein receptor SorLA

Associations between Certain Polymorphisms in Proinflammatory Cytokines and Predisposition of Alzheimer’s Disease: A Meta-Analysis

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