Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The PICALM rs541458 T allele has been recognized as a risk factor for late-onset Alzheimer's disease, and age might modulate the effects that genetic factors have on cognitive functions and brain.
|
28116548 |
2018 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The repair response is also blocked by loss of calpain function, and is altered by loss-of-function mutations in the C. elegans orthologs of BIN1 and PICALM, well-established risk genes for late onset Alzheimer's disease.
|
30497524 |
2018 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A case-control study was conducted in 362 individuals (181 LOADs and 181 controls) to determine the association of single-nucleotide polymorphisms in APOE (e2, e3, and e4), TOMM40 (rs2075650), CR1 (rs665640), PVRL2 (rs6859), SORL1 (rs11218304), PICALM (rs3851179), and GWA_14q32.13 (rs11622883) with LOAD in a sample from Colombia.
|
27023435 |
2017 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Here, we took the baseline volume and/or thickness of LOAD-associated brain regions as proxies of brain reserve capacities and investigated whether PICALM genetic variations can influence the baseline reserve capacities and the longitudinal atrophy rate of these specific regions using data from Alzheimer's Disease Neuroimaging Initiative (ADNI) dataset.
|
27117083 |
2016 |
Alzheimer Disease, Late Onset
|
0.400 |
Biomarker
|
disease |
BEFREE |
PICALM and CLU are two major risk genes of late-onset Alzheimer's disease (LOAD), and there is strong molecular evidence suggesting their interaction on amyloid-beta deposition, hence finding functional dependency between their risk genotypes may lead to better understanding of their roles in LOAD development and greater clinical utility.
|
27017968 |
2016 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our results confirmed that chemokine receptor type 2 (CCR2), estrogen receptor 1 (ESR1), toll-like receptor 2 (TLR2), tumor necrosis factor alpha (TNF α), APOE, bridging integrator 1 (BIN1), and phosphatidylinositol-binding clathrin assembly protein (PICALM) are LOAD susceptibility loci in Azeri Turk ancestry populations.
|
26553058 |
2016 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
PICALM-rs3851179-G had an unexpected protective effect on incident MCI/LOAD.
|
25189118 |
2015 |
Alzheimer Disease, Late Onset
|
0.400 |
Biomarker
|
disease |
BEFREE |
We conducted targeted sequencing of ABCA7, BIN1, CD2AP, CLU, CR1, EPHA1, MS4A4A/MS4A6A, and PICALM in 3 independent LOAD cohorts: 176 patients from 124 Caribbean Hispanics families, 120 patients and 33 unaffected individuals from the 129 National Institute on Aging LOAD Family Study; and 263 unrelated Canadian individuals of European ancestry (210 sporadic patients and 53 controls).
|
26101835 |
2015 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Here, we summarize the known functions of PICALM and discuss its genetic polymorphisms and their potential physiological effects associated with LOAD.
|
25186232 |
2015 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Reported odds ratios and population attributable fractions (PAF) for late-onset Alzheimer's disease (LOAD) risk loci (BIN1, ABCA7, CR1, MS4A4E, CD2AP, PICALM, MS4A6A, CD33, and CLU) come from clinically ascertained samples.
|
23954108 |
2014 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We confirmed an association of APOE (OMIM 107741) variants with AAO among affected participants with LOAD and observed novel associations of CR1 (OMIM 120620), BIN1 (OMIM 601248), and PICALM (OMIM 603025) with AAO.
|
25199842 |
2014 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Genetic evidence for the involvement of variants at APOE, BIN1, CR1, and PICALM loci in risk of late-onset Alzheimer's disease and evaluation for interactions with APOE genotypes.
|
25022885 |
2014 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
These findings implicate that PICALM might not play a major role in the genetic predisposition to LOAD in Han Chinese.
|
24095218 |
2014 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Single nucleotide polymorphisms at the LOAD risk loci CLU (rs11136000), CR1 (rs6656401, rs3818361), and PICALM (rs3851179) were genotyped and tested for association with Logical Memory immediate recall, Logical Memory delayed recall, Logical Memory percent retention, Visual Reproduction immediate recall, Visual Reproduction delayed recall, and Visual Reproduction percent retention scores from the Wechsler Memory Scale-Revised using multivariable linear regression analysis, adjusting for age at exam, sex, education, and apolipoprotein E ε4 dosage.
|
23643458 |
2014 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To determine whether any of the novel LOAD risk variants are eSNPs, we tested their cis-association with expression of 6 nearby LOAD candidate genes detectable in human brain (ABCA7, BIN1, CLU, MS4A4A, MS4A6A, PICALM) and an additional 13 genes ±100 kb of these SNPs.
|
22722634 |
2012 |
Alzheimer Disease, Late Onset
|
0.400 |
Biomarker
|
disease |
BEFREE |
Our findings showed evidence of CR1, CLU, and PICALM and LOAD susceptibility in an independent southern Chinese population, which provides additional evidence for LOAD association apart from prior genome-wide association studies in Caucasian populations.
|
22015308 |
2012 |
Alzheimer Disease, Late Onset
|
0.400 |
Biomarker
|
disease |
BEFREE |
Our data indicate that PICALM is also a susceptibility gene for LOAD in the Japanese population.
|
22935915 |
2012 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In order to evaluate association with these genome-wide association study-identified genes and to isolate the variants contributing to the pathogenesis of LOAD, we genotyped the top single nucleotide polymorphisms (SNPs), rs11136000 (CLU), rs3818361 (CR1), and rs3851179 (PICALM), and sequenced the entire coding regions of these genes in our cohort of 342 LOAD patients and 277 control subjects.
|
22402018 |
2012 |
Alzheimer Disease, Late Onset
|
0.400 |
Biomarker
|
disease |
BEFREE |
A few of these novel LOAD candidate genes, namely BIN1, CLU, CR1, EXOC3L2 and PICALM, have shown consistent replication, and are thus credible LOAD susceptibility genes.
|
21132329 |
2011 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recent GWAS and subsequent confirmation studies reported several single-nucleotide polymorphisms (SNPs) at the CLU, CR1 and PICALM loci in association with late-onset Alzheimer's disease (AD).
|
21912625 |
2011 |
Alzheimer Disease, Late Onset
|
0.400 |
Biomarker
|
disease |
CTD_human |
We also replicated previous associations at CR1 (rs6701713; P(M) = 4.6 × 10(-10), P(J) = 5.2 × 10(-11)), CLU (rs1532278; P(M) = 8.3 × 10(-8), P(J) = 1.9 × 10(-8)), BIN1 (rs7561528; P(M) = 4.0 × 10(-14), P(J) = 5.2 × 10(-14)) and PICALM (rs561655; P(M) = 7.0 × 10(-11), P(J) = 1.0 × 10(-10)), but not at EXOC3L2, to late-onset Alzheimer's disease susceptibility.
|
21460841 |
2011 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We also tested for epistatic interaction between these variants and APOE ε4 as well as with the previously replicated LOAD GWAS genes (CLU: rs11136000, CR1: rs3818361, and PICALM: rs3851179).
|
21321396 |
2011 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In addition, one variation, rs3851179, in the phosphatidylinositol binding clathrin assembly protein (PICALM) gene and one variation, rs6656401, in the complement component (3b/4b) receptor 1 (CR) gene were associated with AD.
|
20739100 |
2011 |
Alzheimer Disease, Late Onset
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
However, although CLU and PICALM were confirmed to be associated with AD in this independent sample, they did not improve the ability of a model that included age, sex, and APOE to predict incident AD (improvement in area under the receiver operating characteristic curve from 0.847 to 0.849 in the Rotterdam Study and 0.702 to 0.705 in the Cardiovascular Health Study).
|
20460622 |
2010 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The most significant single-nucleotide polymorphisms in CLU (rs11136000), CR1 (rs3818361), and PICALM (rs3851179) were tested for allelic association with LOAD.
|
20554627 |
2010 |