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From SNPedia

Geno Mag Summary
(A;A) 2 Faster aging. Increased risk for Dementia. Less good cholesterol.
(A;G) 2 Lower risk of dementia and Alzheimer's disease. Higher good cholesterol.
(G;G) 2.1 Longer lifespan, 0.28x lower risk of dementia, 0.31x lower risk of Alzheimer's.
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
1000 genomesrs5882
23andMe allrs5882
SNP Nexus

GWAS Ctlgrs5882
Max Magnitude2.1
? (A;A) (A;G) (G;G) 28
This SNP rs5882 in the CETP gene referred to as ILE405VAL and RSAI405V has been related to ageing and exceptional long life. A study in Ashkenazi Jews showed that individuals homozygotic for the G allele have significantly longer lifespans.

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 Association of a Functional Polymorphism in the Cholesteryl Ester Transfer Protein (CETP) Gene With Memory Decline and Incidence of Dementia and CETP Variant Linked to Slower Cognitive Decline and Reduced Dementia Risk [PMID 20068209OA-icon.png].

[PMID 20855565OA-icon.png] Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease

[PMID 22122979OA-icon.png] The CETP I405V polymorphism is associated with an increased risk of Alzheimer's disease

[PMID 22403620OA-icon.png] Cholesteryl Ester Transfer Protein (CETP) Polymorphisms Affect mRNA Splicing, HDL Levels, and Sex-Dependent Cardiovascular Risk

Risk rs5882(A;A)
Alt rs5882(A;A)
Reference rs5882(G;G)
Significance Other
Disease High density lipoprotein cholesterol level quantitative trait locus 10
Variation info
CLNDBN High density lipoprotein cholesterol level quantitative trait locus 10
Reversed 0
HGVS NC_000016.9:g.57016092G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019077.2,

[PMID 12475937OA-icon.png] Association testing by DNA pooling: an effective initial screen.

[PMID 12802015OA-icon.png] Direct molecular haplotyping of long-range genomic DNA with M1-PCR.

[PMID 17196207OA-icon.png] Effects of cholesterol ester transfer protein (CETP) gene on adiposity in response to long-term overfeeding.

[PMID 17531380] No association of CETP genotype with cognitive function or age-related cognitive change.

[PMID 18034366] Lack of replication of genetic associations with human longevity.

[PMID 18194558OA-icon.png] A hierarchical and modular approach to the discovery of robust associations in genome-wide association studies from pooled DNA samples.

[PMID 18513389OA-icon.png] New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.

[PMID 18549840OA-icon.png] 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.

[PMID 18637884OA-icon.png] Cholesteryl ester transfer protein (CETP) genetic variation and early onset of non-fatal myocardial infarction.

[PMID 18660489] Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.

[PMID 19041386OA-icon.png] Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.

[PMID 19131662OA-icon.png] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.

[PMID 19263529OA-icon.png] Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.

[PMID 19682379OA-icon.png] TagSNP transferability and relative loss of variability prediction from HapMap to an admixed population.

[PMID 19802338OA-icon.png] 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.

[PMID 20031564OA-icon.png] 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.

[PMID 21316679] 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
aa_change Val422Ile
aa_change_short V422I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.588864

[PMID 22833659OA-icon.png] 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

[PMID 24283500OA-icon.png] CETP gene polymorphisms and risk of coronary atherosclerosis in a Chinese population

[PMID 24426196OA-icon.png] Association of CETP and LIPC Gene Polymorphisms with HDL and LDL Sub-fraction Levels in a Group of Indian Subjects: A Cross-Sectional Study

[PMID 23021345] Gene-diet interactions on plasma lipid levels in the Inuit population.

[PMID 23274582] 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 24997672OA-icon.png] Serum cholesterol and variant in cholesterol-related gene CETP predict white matter microstructure

[PMID 26244602] Cholesterol ester transfer protein polymorphism rs5882 is associated with triglyceride-lowering in response to plant sterol consumption

[PMID 26253899] Genetic markers of cholesterol transport and gray matter diffusion: a preliminary study of the CETP I405V polymorphism

[PMID 27439317] Cholesteryl ester transfer protein (CETP) I405V polymorphism and cardiovascular disease in eastern European Caucasians - a cross-sectional study

[PMID 24468472] Association between the CETP polymorphisms and the risk of Alzheimer's disease, carotid atherosclerosis, longevity, and the efficacy of statin therapy