rs5882
| Orientation | plus |
| Stabilized | plus |
| 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. |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 56982180 |
| Gene | CETP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs5882 |
| dbSNP (classic) | rs5882 |
| ClinGen | rs5882 |
| ebi | rs5882 |
| HLI | rs5882 |
| Exac | rs5882 |
| Gnomad | rs5882 |
| Varsome | rs5882 |
| LitVar | rs5882 |
| Map | rs5882 |
| PheGenI | rs5882 |
| Biobank | rs5882 |
| 1000 genomes | rs5882 |
| hgdp | rs5882 |
| ensembl | rs5882 |
| geneview | rs5882 |
| scholar | rs5882 |
| rs5882 | |
| pharmgkb | rs5882 |
| gwascentral | rs5882 |
| openSNP | rs5882 |
| 23andMe | rs5882 |
| SNPshot | rs5882 |
| SNPdbe | rs5882 |
| MSV3d | rs5882 |
| GWAS Ctlg | rs5882 |
| GMAF | 0.4481 |
| Max Magnitude | 2.1 |
| ? | (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 20068209
].
[PMID 20855565] Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease
[PMID 22122979] The CETP I405V polymorphism is associated with an increased risk of Alzheimer's disease
[PMID 22403620] 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 Hyperalphalipoproteinemia |
| Variation | info |
| Gene | CETP |
| CLNDBN | High density lipoprotein cholesterol level quantitative trait locus 10 Hyperalphalipoproteinemia |
| Reversed | 0 |
| HGVS | NC_000016.9:g.57016092G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019077.2, RCV000283037.1, |
[PMID 12475937] Association testing by DNA pooling: an effective initial screen.
[PMID 12802015] Direct molecular haplotyping of long-range genomic DNA with M1-PCR.
[PMID 17196207] 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 18194558] A hierarchical and modular approach to the discovery of robust associations in genome-wide association studies from pooled DNA samples.
[PMID 18513389] New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.
[PMID 18549840] 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 18637884] 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 19041386] Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.
[PMID 19131662] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
[PMID 19263529] Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.
[PMID 19682379] TagSNP transferability and relative loss of variability prediction from HapMap to an admixed population.
[PMID 19802338] 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 20031564] 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.
[PMID 22833659] 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 24283500] CETP gene polymorphisms and risk of coronary atherosclerosis in a Chinese population
[PMID 24426196] 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 24997672] 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
[PMID 29310573] Association of rs662799 in APOA5 with CAD in Chinese Han population.
[PMID 29942448] Cholesteryl ester transfer protein gene variations and macronutrient intakes interaction in relation to metabolic syndrome: Tehran lipid and glucose study.
