rs17070145
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 2.1 | reduced memory abilities |
| (C;T) | 2 | increased memory performance |
| (T;T) | 2.1 | greatly increased memory performance |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 168418786 |
| Gene | WWC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs17070145 |
| dbSNP (classic) | rs17070145 |
| ClinGen | rs17070145 |
| ebi | rs17070145 |
| HLI | rs17070145 |
| Exac | rs17070145 |
| Gnomad | rs17070145 |
| Varsome | rs17070145 |
| LitVar | rs17070145 |
| Map | rs17070145 |
| PheGenI | rs17070145 |
| Biobank | rs17070145 |
| 1000 genomes | rs17070145 |
| hgdp | rs17070145 |
| ensembl | rs17070145 |
| geneview | rs17070145 |
| scholar | rs17070145 |
| rs17070145 | |
| pharmgkb | rs17070145 |
| gwascentral | rs17070145 |
| openSNP | rs17070145 |
| 23andMe | rs17070145 |
| SNPshot | rs17070145 |
| SNPdbe | rs17070145 |
| MSV3d | rs17070145 |
| GWAS Ctlg | rs17070145 |
| GMAF | 0.455 |
| Max Magnitude | 2.1 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 17053149] In a Swiss cohort: "Carriers of KIBRA rs17070145 T allele had 24% better free recall performance 5 min after word presentation (P = 0.000004) and 19% better free recall performance 24 hours after word presentation (P = 0.0008) than did noncarriers."
In a US cohort: "T allele carriers had significantly better memory scores than non-carriers in the Buschke's Selective Reminding Test (SRT). Performance on another episodic memory task, the Rey Auditory Verbal Learning Test (AVLT), was also significantly different between allele groups." In another Swiss cohort, with a visual episodic memory task: "T allele carriers also performed significantly better than did noncarriers in this population." "Functional magnetic resonance imaging detected KIBRA allele-dependent differences in hippocampal activations during memory retrieval."
[PMID 17353070] Replication in a healthy elderly cohort.
[PMID 19606085
] Cognitive Flexibility is Associated with KIBRA Variant and Modulated by Recent Tobacco Use
[PMID 20150879] Single nucleotide polymorphism of the KIBRA gene in recurrent depressive disorders
[PMID 20185150] Evidence of association of KIBRA genotype with episodic memory in families of psychotic patients and controls
[PMID 20509760] Association study of KIBRA gene with memory performance in a Japanese population
[PMID 21185624] Association of common KIBRA variants with episodic memory and AD risk
[PMID 21976506] KIBRA Polymorphism Is Related to Enhanced Memory and Elevated Hippocampal Processing
[PMID 22457502] Interaction of BDNF and COMT Polymorphisms on Paired-Associative Stimulation-Induced Cortical Plasticity
[PMID 17707552] Age-dependent association of KIBRA genetic variation and Alzheimer's disease risk.
[PMID 17903297] Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study.
[PMID 18194457] KIBRA genetic polymorphism influences episodic memory in later life, but does not increase the risk of mild cognitive impairment.
[PMID 18205171] Failure to replicate effect of Kibra on human memory in two large cohorts of European origin.
[PMID 18789830] Evidence for an association between KIBRA and late-onset Alzheimer's disease.
[PMID 19397951] Association of KIBRA and memory.
[PMID 20184726] Caspase-1 genetic variation is not associated with Alzheimer's disease risk.
[PMID 20552044] KIBRA: A New Gateway to Learning and Memory?
[PMID 21346737] Impact of common KIBRA allele on human cognitive functions.
[PMID 21643791] The role of memory-related gene polymorphisms, KIBRA and CLSTN2, on replicate memory assessment in the elderly.
[PMID 23266749] KIBRA gene variants are associated with synchronization within the default-mode and executive control networks
[PMID 23926262] KIBRA Polymorphism Is Associated with Individual Differences in Hippocampal Subregions: Evidence from Anatomical Segmentation using High-Resolution MRI
[PMID 22794909] Association of KIBRA rs17070145 polymorphism and episodic memory in individuals with severe TBI.
[PMID 23065961] Association of KIBRA with episodic and working memory: a meta-analysis.
[PMID 23733450] Aging and KIBRA/WWC1 genotype affect spatial memory processes in a virtual navigation task.
[PMID 23778582] Common exonic missense variants in the C2 domain of the human KIBRA protein modify lipid binding and cognitive performance.
| ClinVar | |
|---|---|
| Risk | Rs17070145(T;T) |
| Alt | Rs17070145(T;T) |
| Reference | Rs17070145(C;C) |
| Significance | Other |
| Disease | Memory quantitative trait locus |
| Variation | info |
| Gene | WWC1 |
| CLNDBN | Memory quantitative trait locus |
| Reversed | 0 |
| HGVS | NC_000005.9:g.167845791C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000088686.2, |
[PMID 25800888] Genetic Association Between KIBRA Polymorphism and Alzheimer's Disease with in a Japanese Population
[PMID 28859866] Association of KIBRA polymorphism with risk of Alzheimer's Disease: Evidence based on 20 case-control studies.
[PMID 30953258] KIBRA T allele influences memory performance and progression of cognitive decline: a 7-year follow-up study in subjective cognitive decline and mild cognitive impairment.
