SORL1 gene polymorphism association with late-onset Alzheimer’s disease

Feng, Xialu; Hou, Deren; Deng, Yanyao; Li, Wei; Tian, Mi; Zhang, Yu

doi:10.1016/j.neulet.2014.10.055

Cited by 22 publications

(17 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Consistent with our findings, in a study of persons of Han Chinese descent in mainland China, researchers found that the G allele of rs1784933, but not the other two tested SORL1 SNPs was related to a reduced risk of AD [16]. Although the associations between SORL1 polymorphisms and AD have been replicated in several studies [14, 15], the regions tagged by most significant SNPs vary across different ethnic groups.…”

Section: Discussionsupporting

confidence: 89%

“…The ε2, ε3, and ε4 alleles of APOE were determined by two SNPs (rs429358 and rs7412) [29]. Eight SORL1 SNPs were selected on the basis of (1) rs2070045, rs1699102, rs3824968, rs2282649, and rs1010159 (aka SNP19, 22, 23, 24, and 25 in the original report by Rogaeva et al [12]) being the top signals related to LOAD in white populations [12, 14]; (2) rs3737529 and rs1784933 being the most significant SNPs in Asian populations [15, 16]; and (3) the nonsynonymous SNP rs2298813 having been demonstrated to increase Aβ production in cellular models [30]. All genotyping reactions were carried out using the TaqMan genotyping assay (Applied Biosystems, Foster City, CA, USA).…”

Section: Methodsmentioning

confidence: 99%

“…Rogaeva et al first illustrated that single-nucleotide polymorphisms (SNPs) located within two clusters of the SORL1 genome (SNPs 8–10 and SNPs 23–25) were related to LOAD susceptibility [12]. This association was later replicated in several ethnic groups, including white, Japanese, Korean, and Chinese populations [13–16]. Previous studies showed that SORL1 polymorphisms were related to decreased cerebrospinal fluid (CSF) concentrations of Aβ42 and Aβ40, as well as reduced CSF levels of SORL1 protein [17–19].…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

SORL1 gene, plasma biomarkers, and the risk of Alzheimer’s disease for the Han Chinese population in Taiwan

et al. 2016

View full text Add to dashboard Cite

BackgroundThe sortilin-related receptor 1 (SORL1) gene, regulating the trafficking and recycling of amyloid precursor protein, has been related to Alzheimer’s disease (AD) and mild cognitive impairment (MCI). The aim of the present study was to investigate the relationship between SORL1 polymorphisms, plasma concentrations of amyloid-beta (Aβ) isoforms, and AD and MCI susceptibility for a Han Chinese population in Taiwan.MethodsEight single-nucleotide polymorphisms (SNPs) in SORL1 and the apolipoprotein E gene (APOE) ε4 alleles were genotyped in 798 patients with AD, 157 patients with MCI, and 401 control subjects. Plasma concentrations of Aβ42, Aβ40, and neuropsychiatric tests for six different cognitive domains were examined.ResultsAmong the eight tested SNPs, SORL1 rs1784933 was most significantly associated with AD and MCI in our population. The G allele of rs1784933 exerted a protective effect and was associated with a reduced risk of AD (odds ratio [OR] = 0.75, p = 0.004) and MCI (OR = 0.69, p = 0.013). The significance remained after we adjusted for age, sex, and APOE ε4 alleles. For the overall participants, the plasma concentrations of Aβ42 were nominally significant for subjects carrying the rs1784933 G allele having a lower level than those without the G allele (p = 0.046). There was a similar trend for the G allele carriers to have a lower plasma Aβ40 level than noncarriers, but this was not significant. The nonsynonymous SNP rs2298813 was also related to a lower disease risk when AD and MCI were combined as a group (OR = 0.76, p = 0.035). However, there was no association between SORL1 genotypes and any of the six cognitive tests.ConclusionsFindings from our study provide support for the effect of SORL1 gene on the disease risks and pathognomonic surrogates of AD/MCI. The interaction between SORL1 polymorphisms and Aβ formation requires further study.

show abstract

Section: Discussionsupporting

confidence: 89%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

SORL1 gene, plasma biomarkers, and the risk of Alzheimer’s disease for the Han Chinese population in Taiwan

et al. 2016

View full text Add to dashboard Cite

show abstract

“…Previous findings show that genetics variants within the SORL1 gene are significantly associated with AD susceptibility in the Han Chinese population 13,20–24. To identify new genetic variants within the SORL1 gene associated with SAD susceptibility in the Han Chinese population, we performed this two-step study.…”

Section: Discussionmentioning

confidence: 99%

An exploratory study of the association between SORL1 polymorphisms and sporadic Alzheimer’s disease in the Han Chinese population

Zhang

Liu

Wang³

et al. 2015

NDT

View full text Add to dashboard Cite

In previous studies, we reported that the sortilin-related receptor, L (DLR class) A repeats containing (SORL1) gene single nucleotide polymorphisms (SNPs) are associated with the risk of sporadic Alzheimer’s disease (SAD) in the Han Chinese population. To further explore the relationships between SORL1 genetic variants and SAD, we conducted a two-step study. Sequencing analysis in 50 case samples identified 14 SNPs within the promoter and untranslated region of the SORL1 gene. Subsequent genotyping analysis in 106 patients with SAD and 179 healthy controls detected a significant association between the “G” allele of SNP rs1133174 in the 3′ untranslated region of the SORL1 gene and SAD risk (odds ratio =1.92, 95% confidence interval [95% CI] =1.28–2.90, adjusted P=0.028). In addition, “G” allele carriers of rs1133174 (GA + GG) have a 2.15-fold increased risk of SAD compared to noncarriers (AA) (adjusted P=0.042). However, no significant positive associations were observed in the other 13 SNPs within the SORL1 gene. These preliminary findings suggest that the SORL1 SNP rs1133174 may be a potential risk locus for SAD in the Han Chinese population.

show abstract

“…Five of them have been validated to associate with AD in GWAS of ethnically distinct populations: rrs11218350, s12364988, rs2298813, rs3824968, rs4935774 [11, 15, 20]. And the other three SNPs (rs3781836, rs1784933, rs753780) were revealed to have intimate relativity with AD, either in neuroimaging characteristics or cognitive impairment [12, 37–39]. Detailed position and function SNP information is showed in Table 2.…”

Section: Resultsmentioning

confidence: 99%

Impact of SORL1 genetic variations on MRI markers in non-demented elders

Yin

Tan

et al. 2016

Oncotarget

View full text Add to dashboard Cite

The sorting protein-related receptor 1 (SORL1 or LR11) gene has been verified to play an important role in the pathologic process of β-amyloid (Aβ) formation and trafficking in Alzheimer's Disease (AD) by plenty of cytological and molecular biological studies. But there were few studies investigated the association of SORL1 gene and neurodegeneration features from a rather macroscopic perspective. In the present study, we explored the effect of SORL1 genotypes on AD-related brain atrophy. We recruited 812 individuals with both baseline and two-year follow-up information from the Alzheimer's Disease Neuroimaging Initiative (ADNI) database and applied multiple linear regression models to examine the association between eight single nucleotide polymorphisms (SNPs) and neuroimaging phenotypes. Finally, four SNPs (rs11219350, rs2298813, rs3781836, rs3824968) showed trend of association with the volume of hippocampus and parahippocampal gyrus but failed to survive the false discovery rate (FDR) correction. Only rs1784933 and rs753780 showed significant association with right parahippocampal gyrus. According to our findings, SORL1 variations influence the atrophy of specific AD-related brain structures, which suggested the potential role of SORL1 in the neurodegeneration of cognitive related regions.

show abstract

SORL1 gene polymorphism association with late-onset Alzheimer’s disease

Cited by 22 publications

References 16 publications

SORL1 gene, plasma biomarkers, and the risk of Alzheimer’s disease for the Han Chinese population in Taiwan

SORL1 gene, plasma biomarkers, and the risk of Alzheimer’s disease for the Han Chinese population in Taiwan

An exploratory study of the association between SORL1 polymorphisms and sporadic Alzheimer’s disease in the Han Chinese population

Impact of SORL1 genetic variations on MRI markers in non-demented elders

Contact Info

Product

Resources

About

SORL1 gene polymorphism association with late-onset Alzheimer’s disease

Cited by 22 publications

References 16 publications

SORL1 gene, plasma biomarkers, and the risk of Alzheimer’s disease for the Han Chinese population in Taiwan

SORL1 gene, plasma biomarkers, and the risk of Alzheimer’s disease for the Han Chinese population in Taiwan

An exploratory study of the association between SORL1 polymorphisms and sporadic Alzheimer&rsquo;s disease in the Han Chinese population

Impact of SORL1 genetic variations on MRI markers in non-demented elders

Contact Info

Product

Resources

About

An exploratory study of the association between SORL1 polymorphisms and sporadic Alzheimer’s disease in the Han Chinese population