|
rs1799836
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These results indicate that COMT Val158Met, DBH rs1611115, and MAOB rs1799836 polymorphisms deserve further investigation as genetic markers of AD.
|
31771069 |
2020 |
|
rs2066713
|
|
|
0.010 |
GeneticVariation |
BEFREE |
SLC6A4 polymorphisms are not associated with the risk of developing major psychiatric disorders (SCZ and BPD); however some signals were detected in ALC (HTTLPR p<sub>d</sub> = 9.25 × 10<sup>-03</sup>, p<sub>r</sub> = 7.24 × 10<sup>-03</sup>; rs2066713 p<sub>d</sub> = 6.35 × 10<sup>-08</sup>; rs25531 p<sub>d</sub> = 2.95 × 10<sup>-02</sup>; rs4251417 p<sub>d</sub> = 2.46 × 10<sup>-03</sup>), and ALZ (rs6354 p<sub>r</sub> = 1.22 × 10<sup>-02</sup>; rs7224199 p<sub>d</sub> = 1.00 × 10<sup>-08</sup>, p<sub>r</sub> = 2.65 × 10<sup>-02</sup>) cohorts.
|
31595439 |
2020 |
|
rs2234246
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We explored the effect of rs2234246 on AD specific biomarker (amyloid-β PET) to look into the role of this TREM1 locus in AD pathogenesis.
|
31721052 |
2020 |
|
rs4251417
|
|
|
0.010 |
GeneticVariation |
BEFREE |
SLC6A4 polymorphisms are not associated with the risk of developing major psychiatric disorders (SCZ and BPD); however some signals were detected in ALC (HTTLPR p<sub>d</sub> = 9.25 × 10<sup>-03</sup>, p<sub>r</sub> = 7.24 × 10<sup>-03</sup>; rs2066713 p<sub>d</sub> = 6.35 × 10<sup>-08</sup>; rs25531 p<sub>d</sub> = 2.95 × 10<sup>-02</sup>; rs4251417 p<sub>d</sub> = 2.46 × 10<sup>-03</sup>), and ALZ (rs6354 p<sub>r</sub> = 1.22 × 10<sup>-02</sup>; rs7224199 p<sub>d</sub> = 1.00 × 10<sup>-08</sup>, p<sub>r</sub> = 2.65 × 10<sup>-02</sup>) cohorts.
|
31595439 |
2020 |
|
rs6354
|
|
|
0.010 |
GeneticVariation |
BEFREE |
SLC6A4 polymorphisms are not associated with the risk of developing major psychiatric disorders (SCZ and BPD); however some signals were detected in ALC (HTTLPR p<sub>d</sub> = 9.25 × 10<sup>-03</sup>, p<sub>r</sub> = 7.24 × 10<sup>-03</sup>; rs2066713 p<sub>d</sub> = 6.35 × 10<sup>-08</sup>; rs25531 p<sub>d</sub> = 2.95 × 10<sup>-02</sup>; rs4251417 p<sub>d</sub> = 2.46 × 10<sup>-03</sup>), and ALZ (rs6354 p<sub>r</sub> = 1.22 × 10<sup>-02</sup>; rs7224199 p<sub>d</sub> = 1.00 × 10<sup>-08</sup>, p<sub>r</sub> = 2.65 × 10<sup>-02</sup>) cohorts.
|
31595439 |
2020 |
|
rs7224199
|
|
|
0.010 |
GeneticVariation |
BEFREE |
SLC6A4 polymorphisms are not associated with the risk of developing major psychiatric disorders (SCZ and BPD); however some signals were detected in ALC (HTTLPR p<sub>d</sub> = 9.25 × 10<sup>-03</sup>, p<sub>r</sub> = 7.24 × 10<sup>-03</sup>; rs2066713 p<sub>d</sub> = 6.35 × 10<sup>-08</sup>; rs25531 p<sub>d</sub> = 2.95 × 10<sup>-02</sup>; rs4251417 p<sub>d</sub> = 2.46 × 10<sup>-03</sup>), and ALZ (rs6354 p<sub>r</sub> = 1.22 × 10<sup>-02</sup>; rs7224199 p<sub>d</sub> = 1.00 × 10<sup>-08</sup>, p<sub>r</sub> = 2.65 × 10<sup>-02</sup>) cohorts.
|
31595439 |
2020 |
|
rs748703149
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a whole-exome sequencing study of a family with probable AD-type dementia without pathogenic variants in known autosomal dominant dementia disease genes and negative for the apolipoprotein E (APOE) ε4 allele, we identified an extremely rare TREM2 coding variant, that is, a glycine-to-tryptophan substitution at amino acid position 145 (NM_018965.3:c.433G>T/p.[Gly145Trp]).
|
31464095 |
2020 |
|
rs766647311
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a whole-exome sequencing study of a family with probable AD-type dementia without pathogenic variants in known autosomal dominant dementia disease genes and negative for the apolipoprotein E (APOE) ε4 allele, we identified an extremely rare TREM2 coding variant, that is, a glycine-to-tryptophan substitution at amino acid position 145 (NM_018965.3:c.433G>T/p.[Gly145Trp]).
|
31464095 |
2020 |
|
rs766647311
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results, suggest that a p.(Gly145Trp)-induced structural disturbance and functional impairment of TREM2 may contribute to the pathogenesis of an AD-like form of dementia.
|
31464095 |
2020 |
|
rs10046
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, our results demonstrated that homozygous TT genotype in rs10046, dominant AA and AG genotypes in rs767199, homozygous TT genotype in rs727479, and dominant TT and TA genotypes in rs1143704 might be the susceptibility genotypes for AD, while no associations were observed between rs1065778, rs1062033, rs1008805, and rs700519 polymorphisms and AD susceptibility.
|
31278540 |
2019 |
|
rs10051644
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Haplotype analysis indicated that the T-A-C-A-T-C-C and T-G-C-A-T-C-C haplotypes in the southwestern cohort and the T-G-C-G-C-T-C haplotype in the eastern cohort, consisting of rs10051644, rs6869634, rs3797617, rs3756577, rs4958445, rs10515639 and rs6881743, showed a significant association with AD (<i>P</i> = 0.037, <i>P</i> = 0.026 and <i>P</i> = 0.045, respectively).
|
31031618 |
2019 |
|
rs1008805
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Association between rs10046, rs1143704, rs767199, rs727479, rs1065778, rs1062033, rs1008805, and rs700519 polymorphisms in aromatase (CYP19A1) gene and Alzheimer's disease risk: a systematic review and meta-analysis involving 11,051 subjects.
|
31278540 |
2019 |
|
rs10139154
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The current study provides preliminary </span>evidence of the involvement of SCFD1 rs10139154 in the risk of developing AD.
|
31267315 |
2019 |
|
rs10164112
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, in combination with the <i>APOE</i> ε4 allele, the rs10164112-T allele has been found to be a risk factor for AD in the Han Chinese population reported in this study.
|
30666118 |
2019 |
|
rs10399931
|
|
|
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 |
|
rs1041833271
|
|
|
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 |
|
rs10515639
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Haplotype analysis indicated that the T-A-C-A-T-C-C and T-G-C-A-T-C-C haplotypes in the southwestern cohort and the T-G-C-G-C-T-C haplotype in the eastern cohort, consisting of rs10051644, rs6869634, rs3797617, rs3756577, rs4958445, rs10515639 and rs6881743, showed a significant association with AD (<i>P</i> = 0.037, <i>P</i> = 0.026 and <i>P</i> = 0.045, respectively).
|
31031618 |
2019 |
|
rs10792421
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Further, we identified two novel loci jointly associated with AD and BIP implicating the <i>MARK2</i> gene (lead SNP rs10792421, conjunctional FDR = 0.030, same direction of effect) and the <i>VAC14</i> gene (lead SNP rs11649476, conjunctional FDR = 0.022, opposite direction of effect).
|
30930738 |
2019 |
|
rs1126680
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found synergy between APOE-ε4 and SNPs localized in 5'UTR (rs1126680) and in intron 2 (rs55781031) of the BCHE-K allele (rs1803274) in 18% of patients with late-onset AD (n = 55).
|
30914707 |
2019 |
|
rs113145702
|
|
|
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 |
|
rs1143704
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, our results demonstrated that homozygous TT genotype in rs10046, dominant AA and AG genotypes in rs767199, homozygous TT genotype in rs727479, and dominant TT and TA genotypes in rs1143704 might be the susceptibility genotypes for AD, while no associations were observed between rs1065778, rs1062033, rs1008805, and rs700519 polymorphisms and AD susceptibility.
|
31278540 |
2019 |
|
rs11649476
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Further, we identified two novel loci jointly associated with AD and BIP implicating the <i>MARK2</i> gene (lead SNP rs10792421, conjunctional FDR = 0.030, same direction of effect) and the <i>VAC14</i> gene (lead SNP rs11649476, conjunctional FDR = 0.022, opposite direction of effect).
|
30930738 |
2019 |
|
rs1200601649
|
|
|
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 |
|
rs1220355764
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Generation of an integration-free iPSC line, ICCSICi006-A, derived from a male Alzheimer's disease patient carrying the PSEN1-G206D mutation.
|
31627126 |
2019 |
|
rs1287723181
|
|
|
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 |