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rs1315025573
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified two novel mutations of <i>PSEN1</i> (Y256N and H214R) in samples from these families, and a <i>de novo</i> mutation of <i>PSEN1</i> (G206V) in a patient with very early-onset sporadic Alzheimer's disease.
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31440394 |
2019 |
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rs13500
|
|
|
0.010 |
GeneticVariation |
BEFREE |
CH25H rs13500 polymorphism is associated with an AD risk in the Turkish population and CH25H might have a role in the pathogenesis of AD together with, and independently from APOE.
|
30684189 |
2019 |
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rs1362575880
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our findings suggest that both I249L and P433S are pathogenic for early onset of AD by increasing Aβ42 production and Aβ42/Aβ40 ratios.
|
31235249 |
2019 |
|
rs138412600
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Among 3145 patients with AD and 4213 controls lacking ε4 (mean [SD] age, 83.4 [7.6] years; 4363 [59.3.%] women), novel genome-wide significant associations were obtained in the discovery sample with rs536940594 in AC099552 (odds ratio [OR], 88.0; 95% CI, 9.08-852.0; P = 2.22 × 10-7) and rs138412600 in GPAA1 (OR, 1.78; 95% CI, 1.44-2.2; meta-P = 7.81 × 10-8).
|
31180460 |
2019 |
|
rs142232675
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three variants in TREM2 (rs75932628 (R47H), rs2234255 (H157Y), and rs143332484 (R62H)) were significantly associated with AD risk, but the similar associations between rs104894002 (Q33X), rs2234253 (T96K), rs142232675 (D87N), rs2234256 (L211P), and AD were not proven.
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30883352 |
2019 |
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rs1446915570
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Neuropathologic and molecular studies in brains of carriers of the PSEN1 p.A396T mutation or other PSEN1 or PSEN2 mutations associated with the coexistence of DLBD and AD are needed to clarify whether tau and α-synuclein proteinopathies occur independently or whether a relationship exists between α-synuclein and tau that might explain the mechanisms of coaggregation.
|
31165862 |
2019 |
|
rs1470272477
|
|
|
0.010 |
GeneticVariation |
BEFREE |
PSEN1 p.L226R was found in an early-onset AD (EOAD) family characterized by language impairment at disease onset, a novel probably pathogenetic variant (p.D534H) was identified in a frontal-temporal dementia gene, TANK-binding kinase 1 (TBK1) with a typical AD phenotype in a late-onset AD (LOAD) family, and a PSEN2p.H169N mutation and two benign MAPT (p.Q230R and p.V48L) mutations were detected in three EOAD patients.
|
30549411 |
2019 |
|
rs147458427
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Gene-based burden analysis in a Dutch AD exome cohort containing 547 cases and 1070 controls showed a significant association of EIF2AK3 with AD (OR 1.84 [95% CI 1.07-3.17], p-value 0.03), mainly driven by the variant p.R240H.
|
30314817 |
2019 |
|
rs1568565
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We aimed to investigate the association between polymorphisms in several cholesterol-related genes [APOA5 (rs662799), APOC1 (rs11568822), APOD (rs1568565), CH25H (rs13500), LDLR (rs5930), SORL1 (rs2282649)] and AD in a cohort of Turkish patients.
|
30684189 |
2019 |
|
rs157581
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We analyzed rs-fMRI characteristics of TOMM40 rs157581-G carriers of AD for the first time, which suggest that TOMM40 rs157581-G plays a harmful role in AD patients.
|
31568198 |
2019 |
|
rs16914781
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified two key epistatic interactions between the APOE*E2 allele and SNPs ASTN2-rs7852878 and SNTG1-rs16914781 that delay AOO by up to ~ 8 years (95% CI 3.2-12.7, P = 1.83 × 10<sup>-3</sup>) and ~ 7.6 years (95% CI 3.3-11.8, P = 8.69 × 10<sup>-4</sup>), respectively, and validated our previous finding indicating that APOE*E2 delays AOO of AD in PSEN1 E280 mutation carriers.
|
30112632 |
2019 |
|
rs16947151
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found that, in the progressive mild cognitive impairment group, rs5978930 was associated with total tau levels and rs16947151 was associated with cognitive function scores at baseline and over time, suggesting that ABI3 variants may be associated with cognitive decline and may influence AD onset through tau pathology.
|
31127786 |
2019 |
|
rs201093867
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified two novel mutations of <i>PSEN1</i> (Y256N and H214R) in samples from these families, and a <i>de novo</i> mutation of <i>PSEN1</i> (G206V) in a patient with very early-onset sporadic Alzheimer's disease.
|
31440394 |
2019 |
|
rs202218688
|
|
|
0.010 |
GeneticVariation |
BEFREE |
PSEN1 p.L226R was found in an early-onset AD (EOAD) family characterized by language impairment at disease onset, a novel probably pathogenetic variant (p.D534H) was identified in a frontal-temporal dementia gene, TANK-binding kinase 1 (TBK1) with a typical AD phenotype in a late-onset AD (LOAD) family, and a PSEN2p.H169N mutation and two benign MAPT (p.Q230R and p.V48L) mutations were detected in three EOAD patients.
|
30549411 |
2019 |
|
rs2234256
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three variants in TREM2 (rs75932628 (R47H), rs2234255 (H157Y), and rs143332484 (R62H)) were significantly associated with AD risk, but the similar associations between rs104894002 (Q33X), rs2234253 (T96K), rs142232675 (D87N), rs2234256 (L211P), and AD were not proven.
|
30883352 |
2019 |
|
rs2293489
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genotype distribution of STX1a rs4717806 and rs2293489 resulted significantly different in AD compared to HC (p = 0.032 and p = 0.047, respectively).
|
30958380 |
2019 |
|
rs2383204
|
|
|
0.010 |
GeneticVariation |
BEFREE |
For POAG, an AD signal was observed at the 9p21 European descent (ED) POAG signal (rs79721419; P < 6.5×10<sup>-5</sup>) independent of the previously observed 9p21 ED signal (rs2383204; P < 2.3×10<sup>-5</sup>) by conditional analyses.
|
30352225 |
2019 |
|
rs35870237
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The results showed that LRRK2 variants (p.R1628P, p.G2385R, p.N551K, p.G2019S, and p.I2020T) were not associated with the risk of AD a</span>nd were not a common cause of AD in populations.
|
31038182 |
2019 |
|
rs370767403
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three variants in TREM2 (rs75932628 (R47H), rs2234255 (H157Y), and rs143332484 (R62H)) were significantly associated with AD risk, but the similar associations between rs104894002 (Q33X), rs2234253 (T96K), rs142232675 (D87N), rs2234256 (L211P), and AD were not proven.
|
30883352 |
2019 |
|
rs440446
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We tested if the ε4 major isoform of the APOE gene and rs405509 and rs440446 promoter and intron-1 polymorphisms predicted risk of any dementia or Alzheimer's disease with diagnoses derived from the Hospital Discharge and Causes of Death Registers in 1453 participants of the Helsinki Birth Cohort Study.
|
30293724 |
2019 |
|
rs4717806
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genotype distribution of STX1a rs4717806 and rs2293489 resulted significantly different in AD compared to HC (p = 0.032 and p = 0.047, respectively).
|
30958380 |
2019 |
|
rs4950928
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Polymorphisms of the CHI3L1 gene (rs4950928 C>G and rs10399931 C>T) are associated with the risk and prognosis of AD and can affect the expression of CHI3L1 in plasma.
|
30223258 |
2019 |
|
rs4958445
|
|
|
0.010 |
GeneticVariation |
BEFREE |
When the two samples were combined, rs4958445 still showed a significant association with AD (<i>P</i> = 0.044).
|
31031618 |
2019 |
|
rs4986790
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A coding variant in the TLR4 receptor (rs4986790), previously associated with longevity and Alzheimer's disease (AD) risk reduction, was examined in a population isolate (Québec Founder Population [QFP]) and in presymptomatic individuals with a parental history of AD (Pre-Symptomatic Evaluation of Novel or Experimental Treatment for Alzheimer's Disease [PREVENT-AD]).
|
31175027 |
2019 |
|
rs514492
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A common splice-site variant rs514492 in the FTD-causal gene VCP showed a positive association with AD risk (P = 0.0003, OR = 1.618), whereas the rare missense variant rs33949390 (p. R 1628P) in the LBD-causal gene LRRK2 showed a protective effect on AD risk (P = 0.0004, OR = 0.170).
|
30954774 |
2019 |