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rs5882

From SNPedia

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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
Chromosome16
Position56982180
GeneCETP
is asnp
is mentioned by
dbSNPrs5882
ebirs5882
Exacrs5882
Maprs5882
PheGenIrs5882
hapmaprs5882
1000 genomesrs5882
hgdprs5882
ensemblrs5882
gopubmedrs5882
geneviewrs5882
scholarrs5882
googlers5882
pharmgkbrs5882
gwascentralrs5882
openSNPrs5882
23andMers5882
23andMe allrs5882
SNP Nexus

SNPshotrs5882
SNPdbers5882
MSV3drs5882
GWAS Ctlgrs5882
GMAF0.4481
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.
OMIM118470
DescLONGEVITY, EXCEPTIONAL
Variant0004
Relatedalso

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


ClinVar
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
Gene CETP
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
CETP-V422I
aa_change Val422Ile
aa_change_short V422I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.588864
summary



[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