Редактирование: APOC1 (раздел)

==Publications==

{{medline-entry
|title=Genetics of Human Longevity From Incomplete Data: New Findings From the Long Life Family Study.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/30299504
|abstract=The special design of the Long Life Family Study provides a unique opportunity to investigate the genetics of human longevity by analyzing data on exceptional lifespans in families. In this article, we performed two series of genome wide association studies of human longevity which differed with respect to whether missing lifespan data were predicted or not predicted. We showed that the use of predicted lifespan is most beneficial when the follow-up period is relatively short. In addition to detection of strong associations of SNPs in [[APOE]], [[TOMM40]], [[NECTIN2]], and [[APOC1]] genes with longevity, we also detected a strong new association with longevity of rs1927465, located between the [[CYP26A1]] and [[MYOF]] genes on chromosome 10. The association was confirmed using data from the Health and Retirement Study. We discuss the biological relevance of the detected SNPs to human longevity.
|mesh-terms=* Aged
* Aged, 80 and over
* Apolipoprotein C-I
* Apolipoproteins E
* Calcium-Binding Proteins
* Chromosomes, Human, Pair 10
* Chromosomes, Human, Pair 19
* Denmark
* Female
* Gene Frequency
* Genome-Wide Association Study
* Humans
* Logistic Models
* Longevity
* Longitudinal Studies
* Male
* Membrane Proteins
* Membrane Transport Proteins
* Muscle Proteins
* Nectins
* Pedigree
* Polymorphism, Single Nucleotide
* Retinoic Acid 4-Hydroxylase
* United States

|full-text-url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175028
}}
{{medline-entry
|title=A genome-wide association study confirms [[APOE]] as the major gene influencing survival in long-lived individuals.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/21740922
|abstract=We conducted a case-control genome-wide association study (GWAS) of human longevity, comparing 664,472 autosomal SNPs in 763 long-lived individuals (LLI; mean age: 99.7 years) and 1085 controls (mean age: 60.2 years) from Germany. Only one association, namely that of SNP rs4420638 near the [[APOC1]] gene, achieved genome-wide significance (allele-based P=1.8×10(-10)). However, logistic regression analysis revealed that this association, which was replicated in an independent German sample, is fully explicable by linkage disequilibrium with the [[APOE]] allele ɛ4, the only variant hitherto established as a major genetic determinant of survival into old age. Our GWAS failed to identify any additional autosomal susceptibility genes. One explanation for this lack of success in our study would be that GWAS provide only limited statistical power for a polygenic phenotype with loci of small effect such as human longevity. A recent GWAS in Dutch LLI independently confirmed the [[APOE]]-longevity association, thus strengthening the conclusion that this locus is a very, if not the most, important genetic factor influencing longevity.
|mesh-terms=* Aged, 80 and over
* Alleles
* Apolipoproteins E
* Case-Control Studies
* Female
* Genetic Loci
* Genome-Wide Association Study
* Germany
* Humans
* Linkage Disequilibrium
* Longevity
* Male
* Polymorphism, Single Nucleotide

|full-text-url=https://sci-hub.do/10.1016/j.mad.2011.06.008
}}
{{medline-entry
|title=[Risk factors for Alzheimer's disease].
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/20675872
|abstract=Alzheimer disease (AD) is the most common cause of dementia in elderly patients. Identification of risk factors for AD would contribute to the understanding of AD pathogenesis and thus, help in the development of preventive methods. Early-onset familial AD is associated with mutations of the genes encoding amyloid precursor protein (APP), presenilin 1 (PS-1), or PS-2, resulting in the overproduction of amyloid beta-protein. Epidemiological and case-control studies have led to the identification of several risk factors for sporadic AD. The most concrete genetic risk factor for AD is the epsilon4 allele of apolipoprotein E gene (APOE). In addition, several genes such as [[CTNNA3]], [[GAB2]], PVRL2, [[TOMM40]], and [[APOC1]] are known to be the risk factors that contribute to AD pathogenesis. On the other hand, nongenetic risk factors, such as age, sex, alcohol consumption, smoking, depression, head injury, and nutrition have also been reported. Although aging is the strongest risk factor for AD, the mechanisms underlying the development of AD as a result of ageing remain to be elucidated.
|mesh-terms=* Aging
* Alcohol Drinking
* Alzheimer Disease
* Amyloid beta-Peptides
* Amyloid beta-Protein Precursor
* Apolipoproteins E
* Cell Adhesion Molecules
* Craniocerebral Trauma
* Depression
* Humans
* Membrane Transport Proteins
* Mutation
* Nectins
* Presenilins
* Risk Factors
* Smoking
* alpha Catenin


}}
{{medline-entry
|title=Apolipoproteins E and C1 and brain morphology in memory impaired elders.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/12736801
|abstract=Previous research has shown that polymorphisms of the apolipoproteins E ( [[APOE]]) and [[APOC1]] represent genetic risk factors for dementia and for cognitive impairment in the elderly. The brain mechanisms by which these genetic variations affect behavior or clinical severity are poorly understood. We studied the effect of [[APOE]] and [[APOC1]] genes on magnetic resonance imaging measures in a sample of 50 subjects with age-associated memory impairment. The [[APOE]] E4 allele was associated with reduced left hippocampal volumes and [[APOE]]*E3 status was associated with greater frontal lobe white matter volumes. However, no [[APOE]] effects were observed when analyses accounted for other potential confounding variables. The effects of [[APOC1]] on hippocampal volumes appeared to be more robust than those of the [[APOE]] polymorphism. However, no modulatory effects on brain morphology outside the medial temporal lobe region were observed when demographic variables, clinical status, and other anatomical brain measurements were taken into consideration. Our results suggest that the role of the [[APOC1]] polymorphism in brain morphology of the cognitively impaired elderly should be examined in further studies.
|mesh-terms=* Aged
* Aging
* Alleles
* Apolipoprotein C-I
* Apolipoprotein E2
* Apolipoprotein E3
* Apolipoprotein E4
* Apolipoproteins C
* Apolipoproteins E
* Brain
* Cephalometry
* Cerebral Ventricles
* Confounding Factors, Epidemiologic
* Female
* Frontal Lobe
* Genetic Predisposition to Disease
* Genotype
* Hippocampus
* Humans
* Magnetic Resonance Imaging
* Male
* Memory Disorders
* Neuropsychological Tests
* Polymorphism, Genetic
* Temporal Lobe
* Verbal Learning

|full-text-url=https://sci-hub.do/10.1007/s10048-002-0142-8
}}
{{medline-entry
|title=Relationship among (1)H-magnetic resonance spectroscopy, brain volumetry and genetic polymorphisms in humans with memory impairment.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/12113906
|abstract=We investigated the relationship among neuroanatomical, neurochemical and genetic variables in 44 subjects with age-related memory impairment. Hydrogen magnetic resonance spectroscopy was used to determine N-acetyl/creatine (NAA/Cr) concentrations in basal ganglia and medial temporal regions. Volumetric measures were obtained for caudate nucleus and hippocampus. Genetic polymorphisms examined included apolipoproteins (APO) E and CI, angiotensin converting enzyme and dopamine D2 receptor TaqI genes. Age was found to be negatively correlated with hippocampal and basal ganglia volumes, but not with neurochemical values. Multiple regression analyses showed that the [[APOC1]] polymorphism was the only variable which predicted NAA/Cr values in basal ganglia. NAA/Cr metabolites in the medial temporal lobe but not in the basal ganglia region were related with lower performance in verbal memory.
|mesh-terms=* Aged
* Aged, 80 and over
* Aging
* Basal Ganglia
* Caudate Nucleus
* Female
* Hippocampus
* Humans
* Magnetic Resonance Imaging
* Magnetic Resonance Spectroscopy
* Male
* Memory Disorders
* Middle Aged
* Polymorphism, Genetic
* Protons
* Temporal Lobe

|full-text-url=https://sci-hub.do/10.1016/s0304-3940(02)00424-x
}}
{{medline-entry
|title=[[APOE]] and [[APOC1]] genetic polymorphisms in age-associated memory impairment.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/11714102
|abstract=We studied the distribution of two genetic polymorphisms ([[APOE]] and [[APOC1]]) in a sample of 100 subjects fulfilling the NIMH criteria for age-associated memory impairment (AAMI) and 124 controls. We found significant associations both for [[APOE]] and [[APOC1]] loci and their combinations with the AAMI condition. The findings in our sample suggest that memory-impaired subjects as described by the NIMH may be genetically differentiated from normally aging subjects in relation to these two polymorphisms and indicate the interest of considering variations in the [[APOC1]] gene for further studies in cognitive aging.
|mesh-terms=* Aged
* Aging
* Apolipoproteins C
* Apolipoproteins E
* Cognition
* Female
* Gene Frequency
* Genotype
* Humans
* Male
* Memory Disorders
* Middle Aged
* Polymorphism, Genetic

|full-text-url=https://sci-hub.do/10.1007/s100480100122
}}
{{medline-entry
|title=MRI and genetic correlates of cognitive function in elders with memory impairment.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/11378252
|abstract=The present study investigated the relationship between genetic variation, MRI measurements and neuropsychological function in a sample of 58 elders exhibiting memory decline. In agreement with previous reports, we found that the epsilon4 allele of the apolipoprotein E (APOE) and the D allele of the angiotensin converting enzyme (ACE) polymorphisms negatively modulated the cognitive performance. Further, we found an association between the A allele of the apolipoprotein C1 ([[APOC1]]) polymorphism and poorer memory and frontal lobe function. No clear associations emerged between MRI measures of white matter lesions (WML) or hippocampal sulcal cavities (HSC) and the cognitive performance after controlling for age effects. Further, the degree of WML or HSC lesions was in general not predisposed genetically except for the presence of the A allele of the [[APOC1]] polymorphism that was related to a higher severity of HSC scores. Our results suggest that WML or HSC do not represent important brain correlates of genetic influences on cognitive performance in memory impaired subjects.
|mesh-terms=* Aged
* Aged, 80 and over
* Aging
* Apolipoprotein C-I
* Apolipoproteins C
* Apolipoproteins E
* Brain
* Female
* Frontal Lobe
* Genotype
* Hippocampus
* Humans
* Hypertension
* Magnetic Resonance Imaging
* Male
* Memory
* Memory Disorders
* Peptidyl-Dipeptidase A
* Phenotype
* Polymorphism, Genetic

|full-text-url=https://sci-hub.do/10.1016/s0197-4580(01)00207-x
}}