Редактирование: CASS4

Cas scaffolding protein family member 4 (HEF-like protein) (HEF1-EFS-p130Cas-like protein) (HEPL) [C20orf32] [HEFL]

==Publications==

{{medline-entry
|title=Genetic Biomarkers on Age-Related Cognitive Decline.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/29209239
|abstract=With ever-increasing elder populations, age-related cognitive decline, which is characterized as a gradual decline in cognitive capacity in the aging process, has turned out to be a mammoth public health concern. Since genetic information has become increasingly important to explore the biological mechanisms of cognitive decline, the search for genetic biomarkers of cognitive aging has received much attention. There is growing evidence that single-nucleotide polymorphisms (SNPs) within the [i]ADAMTS9, [[BDNF]], [[CASS4]], [[COMT]], [[CR1]], [[DNMT3A]], [[DTNBP1]], [[REST]], [[SRR]], TOMM40[/i], circadian clock, and Alzheimer's diseases-associated genes may contribute to susceptibility to cognitive aging. In this review, we first illustrated evidence of the genetic contribution to disease susceptibility to age-related cognitive decline in recent studies ranging from approaches of candidate genes to genome-wide association studies. We then surveyed a variety of association studies regarding age-related cognitive decline with consideration of gene-gene and gene-environment interactions. Finally, we highlighted their limitations and future directions. In light of advances in precision medicine and multi-omics technologies, future research in genomic medicine promises to lead to innovative ideas that are relevant to disease prevention and novel drugs for cognitive aging.

|keywords=* Alzheimer’s diseases
* SNP–SNP interactions
* age-related cognitive decline
* biomarker
* cognitive aging
* gene–gene interactions
* neurodegeneration
* single-nucleotide polymorphisms
|full-text-url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5702307
}}
{{medline-entry
|title=Association and interaction effects of Alzheimer's disease-associated genes and lifestyle on cognitive aging in older adults in a Taiwanese population.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/28199971
|abstract=Genome-wide association studies and meta-analyses implicated that increased risk of developing Alzheimer's diseases (AD) has been associated with the [[ABCA7]], [[APOE]], [[BIN1]], [[CASS4]], [[CD2AP]], [[CD33]], [[CELF1]], [[CLU]], [[CR1]], [[DSG2]], [[EPHA1]], [[FERMT2]], [[HLA-DRB1]], [[HLA-DRB4]], [[INPP5D]], [[MEF2C]], [[MS4A4A]], [[MS4A4E]], [[MS4A6E]], [[NME8]], [[PICALM]], [[PLD3]], [[PTK2B]], [[RIN3]], [[SLC24A4]], [[SORL1]], and [[ZCWPW1]] genes. In this study, we assessed whether single nucleotide polymorphisms (SNPs) within these 27 AD-associatedgenes are linked with cognitive aging independently and/or through complex interactions in an older Taiwanese population. We also analyzed the interactions between lifestyle and these genes in influencing cognitive aging. A total of 634 Taiwanese subjects aged over 60 years from the Taiwan Biobank were analyzed. Mini-Mental State Examination (MMSE) scores were performed for all subjects to evaluate cognitive functions. Out of the 588 SNPs tested in this study, only the association between [[CASS4]]-rs911159 and cognitive aging persisted significantly (P = 2.2 x 10-5) after Bonferroni correction. Our data also showed a nominal association of cognitive aging with the SNPs in six more key AD-associated genes, including [[EPHA1]]-rs10952552, [[FERMT2]]-rs4901317, [[MEF2C]]-rs9293506, [[PLD3]]-rs11672825, [[RIN3]]-rs1885747, and [[SLC24A4]]-rs67063100 (P = 0.0018~0.0097). Additionally, we found the interactions among [[CASS4]]-rs911159, EPHA-rs10952552, [[FERMT2]]-rs4901317, [[MEF2C]]-rs9293506, or [[SLC24A4]]-rs67063100 on cognitive aging (P = 0.004~0.035). Moreover, our analysis suggested the interactions of [[SLC24A4]]-rs67063100 or [[MEF2C]]-rs9293506 with lifestyle such as alcohol consumption, smoking status, physical activity, or social support on cognitive aging (P = 0.008~0.041). Our study indicates that the AD-associated genes may contribute to the risk of cognitive aging independently as well as through gene-gene and gene-lifestyle interactions.
|mesh-terms=* Age Factors
* Aged
* Alleles
* Alzheimer Disease
* Cognitive Aging
* Epistasis, Genetic
* Female
* Gene-Environment Interaction
* Genetic Association Studies
* Genetic Predisposition to Disease
* Humans
* Life Style
* Male
* Middle Aged
* Polymorphism, Single Nucleotide
* Risk Factors
* Taiwan
|keywords=* Alzheimer’s diseases
* Gerotarget
* Mini-Mental State Examination
* cognitive aging
* gene-gene and gene-lifestyle interactions
* single nucleotide polymorphisms
|full-text-url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5421828
}}
{{medline-entry
|title=Gene-based aggregate SNP associations between candidate AD genes and cognitive decline.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/27005436
|abstract=Single nucleotide polymorphisms (SNPs) in and near [[ABCA7]], [[BIN1]], [[CASS4]], [[CD2AP]], [[CD33]], [[CELF1]], [[CLU]], complement receptor 1 ([[CR1]]), [[EPHA1]], [[EXOC3L2]], [[FERMT2]], HLA cluster (DRB5-DQA), [[INPP5D]], [[MEF2C]], MS4A cluster (MS4A3-[[MS4A6E]]), [[NME8]], [[PICALM]], [[PTK2B]], [[SLC24A4]], [[SORL1]], and [[ZCWPW1]] have been associated with Alzheimer's disease (AD) in large meta-analyses. We aimed to determine whether established AD-associated genes are associated with longitudinal cognitive decline by examining aggregate variation across these gene regions. In two single-sex cohorts of older, community-dwelling adults, we examined the association between SNPs in previously implicated gene regions and cognitive decline (age-adjusted person-specific cognitive slopes) using a Sequence Kernel Association Test (SKAT). In regions which showed aggregate significance, we examined the univariate association between individual SNPs in the region and cognitive decline. Only two of the original AD-associated SNPs were significantly associated with cognitive decline in our cohorts. We identified significant aggregate-level associations between cognitive decline and the gene regions [[BIN1]], [[CD33]], [[CELF1]], [[CR1]], HLA cluster, and [[MEF2C]] in the all-female cohort and significant associations with [[ABCA7]], HLA cluster, [[MS4A6E]], [[PICALM]], [[PTK2B]], [[SLC24A4]], and [[SORL1]] in the all-male cohort. We also identified a block of eight correlated SNPs in [[CD33]] and several blocks of correlated SNPs in [[CELF1]] that were significantly associated with cognitive decline in univariate analysis in the all-female cohort. 
|mesh-terms=* Aged
* Aging
* Alzheimer Disease
* Cognition Disorders
* DNA
* Female
* Genetic Association Studies
* Genetic Predisposition to Disease
* Humans
* Male
* Polymorphism, Single Nucleotide
|keywords=* Candidate AD genes
* Cognitive decline
* SNP associations
|full-text-url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5005889
}}