Effects of SORL1 Gene on Alzheimer's Disease. Focus on Gender, Neuropsychiatric Symptoms and Pro-Inflammatory Cytokines

Olgiati, Paolo; Politis, Antonis; Albani, Diego; Rodilossi, Serena; Polito, Letizia; Zisaki, Aikaterini; Piperi, Christina; Liappas, Ioannis; Stamouli, Evangelia; Mailis, Antonis; Batelli, Sara; Forloni, Gianluigi; Marsano, Agnese; Balestri, Martina; Soldatos, Costantine R.; Ronchi, Diana De; Kalofoutis, Anastasios; Serretti, Alessandro

doi:10.2174/1567205011310020005

Cited by 13 publications

(13 citation statements)

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“…Cellini et al reported an association between SORL1 rs661057 polymorphism and LOAD in women but not in men [49]. We also confirmed the association between SORL1 SNPs and LOAD in a subgroup of women from the GIGAS_LOAD sample [25]. When looking at gene-gene interactions, SORL1 variants have been associated with AD in non-carriers of the APOE epsilon 4 allele but not in its carriers [49; 50].…”

Section: Discussionsupporting

confidence: 82%

“…Inflammatory process might enhance neurodegeneration. In fact we could observe higher levels of pro-inflammatory intrleukin 1-beta in AD patients with TAT haplotype [25].…”

Section: Discussionmentioning

confidence: 68%

“…Recently, we reported that AD patients with SORL1 TAA haplotype (corresponding to TAT in previous studies) were less likely to develop psychosis [25]. The MIRAGE study revealed a link between SORL1 markers in the region encompassing SNPs 6 to 10 and magnetic resonance (MRI) measures in AD families [43].…”

Section: Discussionmentioning

confidence: 90%

“…Different protocols were implemented for Greek and Italian arms and approved by local ethical committees. The GI-GAS_LOAD group already reported on the IL-1alpha gene [24] and SORL1 but limited to the Greek sample [25]. In this study we analyzed both Greek and Italian subjects.…”

Section: Gigas_load Studymentioning

confidence: 99%

“…This sample was already reported [24][25][26]. Recruitment setting was the Neuropsychiatric Clinic of the Eginition Hospital in Athens, an academic center for neuropsychiatric disorders.…”

Section: Greek Samplementioning

confidence: 99%

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Association of SORL1 Alleles with Late-Onset Alzheimer's Disease. Findings from the GIGAS_LOAD Study and Mega-Analysis

Olgiati

Politis²,

Albani

et al. 2012

CAR

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The pathophysiology of Alzheimer's disease (AD) is influenced by sorting-protein related receptor (sorLa) that is less expressed in AD patients. The gene encoding sorLa (SORL1) has been investigated as a susceptibility factor for late-onset AD (LOAD) with conflicting results. Our objectives were to confirm the association between SORL1 SNPs and LOAD in two independent South-European centers and to perform a mega-analysis of published samples. We analyzed three SORL1 SNPs (intron 6: rs668387; rs689021; rs641120) from the Greece-Italy Genetic Association Study on lateonset AD (GIGAS_LOAD). Greek sample included 96 patients with LOAD (DSM-IV) and 120 unrelated controls. In Italy, a community-based sample is ongoing. 47 LOAD patients and 165 controls were recruited until study endpoint. These samples and previously published ones (Alzgene) were pooled as in a single study. A test for trend was used to analyze genotype association. In the GIGAS_LOAD sample no association was detected between SORL1 genotypes and LOAD. Conversely all SNPs were associated with LOAD in mega-analysis based on ordinal classification of genotypes (Armitage's test: p < 0.001). Although our analysis of pooled samples has positive results for the association between SORL1 and AD, there is substantial heterogeneity across studies. Thus further examination into SORL1 SNPs and the population is necessary to determine the role of SORL1 in LOAD.

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Section: Discussionsupporting

confidence: 82%

“…Inflammatory process might enhance neurodegeneration. In fact we could observe higher levels of pro-inflammatory intrleukin 1-beta in AD patients with TAT haplotype [25].…”

Section: Discussionmentioning

confidence: 68%

Section: Discussionmentioning

confidence: 90%

Section: Gigas_load Studymentioning

confidence: 99%

“…This sample was already reported [24][25][26]. Recruitment setting was the Neuropsychiatric Clinic of the Eginition Hospital in Athens, an academic center for neuropsychiatric disorders.…”

Section: Greek Samplementioning

confidence: 99%

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Association of SORL1 Alleles with Late-Onset Alzheimer's Disease. Findings from the GIGAS_LOAD Study and Mega-Analysis

Olgiati

Politis²,

Albani

et al. 2012

CAR

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SORL1 mutation in a Greek family with Parkinson's disease and dementia

Xiromerisiou

Bourinaris

Houlden

et al. 2021

Ann Clin Transl Neurol

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Whole exome sequencing and linkage analysis were performed in a three generational pedigree of Greek origin with a broad phenotypic spectrum spanning from Parkinson’s disease and Parkinson’s disease dementia to dementia of mixed type (Alzheimer disease and vascular dementia). We identified a novel heterozygous c.G1135T (p.G379W) variant in SORL1 which segregated with the disease in the family. Mutation screening in sporadic Greek PD cases identified one additional individual with the mutation, sharing the same 12.8Mb haplotype. Our findings provide support for SORL1 mutations resulting in a broad range of additional phenotypes and warrants further studies in neurodegenerative diseases beyond AD.

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Modulation effect of the SORL1 gene on functional connectivity density in healthy young adults

et al. 2015

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The sortilin-related receptor 1 (SORL1) gene has been associated with late-onset Alzheimer's disease (LOAD) and structural impairments in several ethnic populations. However, how this gene affects brain function properties remains unclear. We investigated associations of SORL1 rs2070045 with functional connectivity density (FCD) in healthy young adults. This single-nucleotide polymorphism was selected because it is the SORL1 variant that has been frequently associated with LOAD in several populations, including the Chinese Han population. A total of 275 healthy young Chinese Han subjects with successful genotyping and MRI examinations were included. The effect of SORL1 rs2070045 was explored using a voxel-wise FCD analysis. A significant effect of SORL1 rs2070045 on the FCD was found in the right inferior temporal gyrus. The risk G allele carriers of the rs2070045 exhibited a lower FCD than the protective TT carriers. This effect was independent of the status of apolipoprotein E. This study provides the first evidence that the SORL1 gene is associated with brain FCD differences in healthy young adults. In the genetic risk subjects, connectivity impairment already starts during young adulthood, which may predispose the risk allele carriers to be susceptible to LOAD after several decades.

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Effects of SORL1 Gene on Alzheimer's Disease. Focus on Gender, Neuropsychiatric Symptoms and Pro-Inflammatory Cytokines

Cited by 13 publications

References 0 publications

Association of SORL1 Alleles with Late-Onset Alzheimer's Disease. Findings from the GIGAS_LOAD Study and Mega-Analysis

Association of SORL1 Alleles with Late-Onset Alzheimer's Disease. Findings from the GIGAS_LOAD Study and Mega-Analysis

SORL1 mutation in a Greek family with Parkinson's disease and dementia

Modulation effect of the SORL1 gene on functional connectivity density in healthy young adults

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