rs17070145

Chromosome : 5 , Position: 168418786
Most conditions are affected by anywhere from hundreds to millions of genetic variants (SNPs). A single SNP usually has a minor contribution to a person’s overall genetic risk for a certain condition. That is why you shouldn't consider or act on a SNP in isolation. Instead, we use SNPs to determine polygenic risk scores (PRSs), which are the basis of most health reports.
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Reference AlleleC
Alternative Alleles:  T

Summary

[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.




[PMID 25800888] Genetic Association Between KIBRA Polymorphism and Alzheimer’s Disease with in a Japanese Population

More Information

rs17070145 is located within the WWC1 gene. It is significantly associated with both episodic (r = 0.068, P = 0.001) and working memory (r = 0.035, P = 0.018) [R].

Among European Americans (EAs) with the ''T'' allele, current smokers made significantly fewer perseverative responses (P<0.001) and perseverative errors (P<0.001) than past smokers [R].

A significant association was seen between the ''T'' allele and better performance in the single principle component of the memory measures (immediate and delayed logical and visual memory) (p=0.019) in psychotic patients [R].

The ''T'' allele carriers had significantly better verbal memory, attention/concentration and delayed recall performance than the C/C carriers (corrected P = 0.044, 0.047 and 0.0084, respectively). Furthermore, the C/T carriers and the T/T carriers had better-delayed recall performance than the C/C carriers (post hoc P = 0.0017 and 0.0096) [R].

''T'' allele was associated with enhanced memory and reduced Alzheimer's disease (AD) risk [R]. 

''T'' allele (CT and TT genotypes) was associated with an increased risk (OR 2.89; p=0.03) for very-late-onset (after the age of 86 years) Alzheimer's disease (AD) [R].

Non-carriers of the ''T'' allele had increased risk of late-onset Alzheimer's disease (AD) in an association study of 702 neuropathologically verified expired subjects (P=0.034; OR=1.29) [R].

''T'' allele carriers had a larger hippocampal volume relative to noncarriers [R].

''T'' allele non-carriers performed better than carriers on multiple episodic memory measures in traumatic brain injury (TBI) [R].

'T'' allele carriers have been reported to outperform individuals that are homozygous for the C-allele in episodic memory tasks [R].

''T'' allele carriers showed better spatial learning compared to C homozygotes in a virtual navigation task [R].

The ''C'' allele affects the onset of Alzheimer's disease (AD) in an age-dependent manner comparing with T/T genotypes and is also associated with risk of substance abuse and relapse [R]. 

Carriers of the T allele conferred a level of resilience to the detrimental effects of high Aβ-amyloid and APOE ε4 [R].

Population Alleles Frequency

ethhicity frequency
African/African-American 0.5782
Latino/Admixed American 0.5955
Ashkenazi Jewish 0.3552
East Asian 0.7607
European 0.325
Other (population not assigned) 0.366

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