{{Rsnum
|rsid=5882
|Gene=CETP
|Chromosome=16
|position=56982180
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.4481
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=CETP
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 44.2 | 39.8 | 15.9
| HCB | 29.2 | 47.4 | 23.4
| JPT | 23.9 | 46.9 | 29.2
| YRI | 11.6 | 43.8 | 44.5
| ASW | 17.5 | 54.4 | 28.1
| CHB | 29.2 | 47.4 | 23.4
| CHD | 26.6 | 51.4 | 22.0
| GIH | 33.7 | 50.5 | 15.8
| LWK | 14.5 | 45.5 | 40.0
| MEX | 31.0 | 51.7 | 17.2
| MKK | 18.6 | 43.6 | 37.8
| TSI | 45.1 | 41.2 | 13.7
| HapMapRevision=28
}}This SNP [[rs5882]] in the [[CETP]] gene referred to as ILE405VAL and RSAI405V has been related to [[ageing]] and exceptional [[longevity|long life]]. A study in [[Ashkenazi]] Jews showed that individuals homozygotic for the G allele have significantly longer lifespans.

{{omim
|desc=LONGEVITY, EXCEPTIONAL
|id=118470
|rsnum=5882
|variant=0004
}}

New research also indicates that G homozygotes have an average of 70% less risk of dementia and [[Alzheimer's disease]]. The study also found that heterozygotes have a lower risk of dementia and [[Alzheimer's disease]] but more study is needed to determine the risk reduction for heterozygotes. See [http://jama.ama-assn.org/cgi/content/short/303/2/150?home Association of a Functional Polymorphism in the Cholesteryl Ester Transfer Protein (CETP) Gene With Memory Decline and Incidence of Dementia] and [http://www.medscape.com/viewarticle/715068?src=rss CETP Variant Linked to Slower Cognitive Decline and Reduced Dementia Risk] {{PMID|20068209|OA=1
}}.

{{PharmGKB
|RSID=rs5882
|Name_s=CETP:Ile405Val; CETP:rs5882 A>G
|Gene_s=CETP
|Feature=Exon/NonSyn
|Evidence=PubMed ID:20068209
|Annotation=Risk or phenotype-associated allele: G Phenotype: CETP V405 valine homozygosity (GG genotype) is associated with slower memory decline and lower incident dementia and AD risk. Study size: 523 Study population/ethnicity: Adults without dementia aged 70 years or older from the Einstein Aging Study. Significance metric(s): p = 0.02 (Dementia); p = 0.04 (AD) Type of association: CO
|Drugs=
|Drug Classes=
|Diseases=Alzheimer Disease; Dementia
|Curation Level=Curated
|PharmGKB Accession ID=PA165111725
}}

{{PharmGKB
|RSID=rs5882
|Name_s=CETP:I405V
|Gene_s=CETP
|Feature=Exon/NonSyn
|Evidence=PubMed ID:18560005
|Annotation=Meta-analysis showed weak inverse association with coronary risk for the CETP:I450V allele.
|Drugs=
|Drug Classes=
|Diseases=Coronary Disease
|Curation Level=Curated
|PharmGKB Accession ID=PA162361024
}}

{{PMID Auto
|PMID=20855565
|Title=Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease
|OA=1
}}

{{PMID Auto
|PMID=22122979
|Title=The CETP I405V polymorphism is associated with an increased risk of Alzheimer's disease
|OA=1
}}

{{PMID Auto
|PMID=22403620
|Title=Cholesteryl Ester Transfer Protein (CETP) Polymorphisms Affect mRNA Splicing, HDL Levels, and Sex-Dependent Cardiovascular Risk
|OA=1
}}

{{ClinVar
|rsid=5882
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=57016092
|CHROM=16
|GMAF=0.4478
|dbSNPBuildID=52
|SSR=0
|SAO=1
|VP=0x05037800000017051f110101
|GENEINFO=CETP:1071
|GENE_NAME=CETP
|GENE_ID=1071
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000016.9:g.57016092G>A
|CLNORIGIN=1
|CLNSIG=255
|Tags=PM;TPA;PMC;S3D;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.4481; 0.5519
|CLNACC=RCV000019077.1
|CLNDBN=High density lipoprotein cholesterol level quantitative trait locus 10
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=118470.0004
|COMMON=1
|Disease=High density lipoprotein cholesterol level quantitative trait locus 10
}}

{{PMID Auto
|PMID=12475937
|Title=Association testing by DNA pooling: an effective initial screen.
|OA=1
}}

{{PMID Auto
|PMID=12802015
|Title=Direct molecular haplotyping of long-range genomic DNA with M1-PCR.
|OA=1
}}

{{PMID Auto
|PMID=17196207
|Title=Effects of cholesterol ester transfer protein (CETP) gene on adiposity in response to long-term overfeeding.
|OA=1
}}

{{PMID Auto
|PMID=17531380
|Title=No association of CETP genotype with cognitive function or age-related cognitive change.
}}

{{PMID Auto
|PMID=18034366
|Title=Lack of replication of genetic associations with human longevity.
}}

{{PMID Auto
|PMID=18194558
|Title=A hierarchical and modular approach to the discovery of robust associations in genome-wide association studies from pooled DNA samples.
|OA=1
}}

{{PMID Auto
|PMID=18513389
|Title=New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.
|OA=1
}}

{{PMID Auto
|PMID=18549840
|Title=Cholesterol ester transfer protein, interleukin-8, peroxisome proliferator activator receptor alpha, and Toll-like receptor 4 genetic variations and risk of incident nonfatal myocardial infarction and ischemic stroke.
|OA=1
}}

{{PMID Auto
|PMID=18637884
|Title=Cholesteryl ester transfer protein (CETP) genetic variation and early onset of non-fatal myocardial infarction.
|OA=1
}}

{{PMID Auto
|PMID=18660489
|Title=Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.
}}

{{PMID Auto
|PMID=19041386
|Title=Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.
|OA=1
}}

{{PMID Auto
|PMID=19131662
|Title=A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
|OA=1
}}

{{PMID Auto
|PMID=19263529
|Title=Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.
|OA=1
}}

{{PMID Auto
|PMID=19682379
|Title=TagSNP transferability and relative loss of variability prediction from HapMap to an admixed population.
|OA=1
}}

{{PMID Auto
|PMID=19802338
|Title=Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication.
|OA=1
}}

{{PMID Auto
|PMID=20031564
|Title=Polymorphism in the CETP gene region, HDL cholesterol, and risk of future myocardial infarction: Genomewide analysis among 18 245 initially healthy women from the Women's Genome Health Study.
|OA=1
}}

{{PMID Auto
|PMID=21316679
|Title=Associations between common genetic polymorphisms in the liver X receptor alpha and its target genes with the serum HDL-cholesterol concentration in adolescents of the HELENA Study.
}}

{{GET Evidence
|gene=CETP
|aa_change=Val422Ile
|aa_change_short=V422I
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs5882
|overall_frequency_n=6335
|overall_frequency_d=10758
|overall_frequency=0.588864
|n_genomes=45
|n_genomes_annotated=0
|n_haplomes=64
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=-4
|autoscore=2
|n_web_uneval=1
}}

{{PMID Auto
|PMID=22833659
|Title=Gender and single nucleotide polymorphisms in MTHFR, BHMT, SPTLC1, CRBP2, CETP, and SCARB1 are significant predictors of plasma homocysteine normalized by RBC folate in healthy adults
|OA=1
}}

{{PMID Auto
|PMID=24283500
|Title=CETP gene polymorphisms and risk of coronary atherosclerosis in a Chinese population
}}

{{PMID Auto
|PMID=24426196
|Title=Association of CETP and LIPC Gene Polymorphisms with HDL and LDL Sub-fraction Levels in a Group of Indian Subjects: A Cross-Sectional Study
|OA=1
}}

{{PMID Auto
|PMID=23021345
|Title=Gene-diet interactions on plasma lipid levels in the Inuit population.
}}

{{PMID Auto
|PMID=23274582
|Title=Different impact of high-density lipoprotein-related genetic variants on polypoidal choroidal vasculopathy and neovascular age-related macular degeneration in a Chinese Han population.
}}

{{PMID Auto
|PMID=24997672
|Title=Serum cholesterol and variant in cholesterol-related gene CETP predict white matter microstructure
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}