CETP, cholesteryl ester transfer protein, 1071

N. diseases: 188; N. variants: 88
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4783961
rs4783961
Entrez Id: 1071
Gene Symbol: CETP
CETP
CUI: C0742343
Disease:
Acute Chest Syndrome
0.010 GeneticVariation BEFREE Two CETP gene polymorphisms (rs4783961 and rs708272) and one LCAT polymorphism (rs2292318) were genotyped by 5' exonuclease TaqMan assays in 619 patients with ACS and 607 control individuals. 29570220 2018
dbSNP: rs708272
rs708272
Entrez Id: 1071
Gene Symbol: CETP
CETP
CUI: C0742343
Disease:
Acute Chest Syndrome
0.010 GeneticVariation BEFREE In summary, this study demonstrates that the rs708272 polymorphism is associated with a heightened risk of developing ACS. 29570220 2018
dbSNP: rs708272
rs708272
Entrez Id: 1071
Gene Symbol: CETP
CETP
CUI: C0948089
Disease:
Acute Coronary Syndrome
0.010 GeneticVariation BEFREE Among 3,717 patients with acute coronary syndrome or coronary artery bypass grafting (CABG) enrolled in a prospective genetic registry, we evaluated whether CETP gene variants previously shown to be associated with reduced CETP activity and high-density lipoprotein cholesterol increase ("A" allele for both TaqIB [rs708272] and rs12149545) are associated with a reduction in recurrent myocardial infarction (MI), recurrent revascularization, or death. 23891427 2013
dbSNP: rs5882
rs5882
Entrez Id: 1071
Gene Symbol: CETP
CETP
CUI: C0155626
Disease:
Acute myocardial infarction
0.010 GeneticVariation BEFREE Genotyping for the CETP -2708 G/A, -971 A/G, -629 A/C, Intron-I TaqI G/A and exon-14 A/G (I405V) SNPs was performed in 578 cases with first acute non-fatal MI and in 666 demographically similar controls, free of clinical cardiovascular disease, identified randomly from the community. 18637884 2008
dbSNP: rs1864163
rs1864163
Entrez Id: 1071
Gene Symbol: CETP
CETP
CUI: C0242383
Disease:
Age related macular degeneration
0.810 GeneticVariation BEFREE Nineteen single nucleotide polymorphisms (SNPs) previously associated with AMD, including rs10490924 (<i>ARMS2/HTRA1</i>), rs10737680 (<i>CFH</i>), rs13278062 (<i>TNFRSF10A</i>), rs1864163 (<i>CETP</i>), rs2230199 (<i>C3</i>), rs3130783 (<i>IER3/DDR1</i>), rs334353 (<i>TGFBR1</i>), rs3812111 (<i>COL10A1</i>), rs429608 (<i>C2/CFB</i>), rs4420638 (<i>APOE</i>), rs4698775 (<i>CFI</i>), rs5749482 (<i>TIMP3</i>), rs6795735 (<i>ADAMTS9</i>), rs8017304 (<i>RAD51B</i>), rs8135665 (<i>SLC16A8</i>), rs920915 (<i>LIPC</i>), rs943080 (<i>VEGFA</i>), rs9542236 (<i>B3GALTL</i>) and rs13081855 (<i>COL8A1/FILIP1L</i>), were genotyped in this cohort. 31819893 2019
dbSNP: rs1864163
rs1864163
Entrez Id: 1071
Gene Symbol: CETP
CETP
CUI: C0242383
Disease:
Age related macular degeneration
0.810 GeneticVariation GWASDB Seven new loci associated with age-related macular degeneration. 23455636 2013
dbSNP: rs1864163
rs1864163
Entrez Id: 1071
Gene Symbol: CETP
CETP
CUI: C0242383
Disease:
Age related macular degeneration
G 0.810 GeneticVariation GWASCAT Seven new loci associated with age-related macular degeneration. 23455636 2013
dbSNP: rs17231506
rs17231506
Entrez Id: 1071
Gene Symbol: CETP
CETP
CUI: C0242383
Disease:
Age related macular degeneration
0.710 GeneticVariation GWASCAT A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. 26691988 2016
dbSNP: rs17231506
rs17231506
Entrez Id: 1071
Gene Symbol: CETP
CETP
CUI: C0242383
Disease:
Age related macular degeneration
0.710 GeneticVariation BEFREE The cholesteryl ester transfer protein risk variant (rs17231506) for AMD was in line with increased HDL levels (P = 7.7 × 10<sup>-7</sup>), but lipase C risk variants (rs2043085, rs2070895) were associated in an opposite way (P = 1.0 × 10<sup>-6</sup> and P = 1.6 × 10<sup>-4</sup>). 30315903 2019
dbSNP: rs5817082
rs5817082
Entrez Id: 1071
Gene Symbol: CETP
CETP
CUI: C0242383
Disease:
Age related macular degeneration
0.700 GeneticVariation GWASCAT A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. 26691988 2016
dbSNP: rs2303790
rs2303790
Entrez Id: 1071
Gene Symbol: CETP
CETP
CUI: C0242383
Disease:
Age related macular degeneration
0.020 GeneticVariation BEFREE We find a strong association between CETP Asp442Gly (rs2303790), an East Asian-specific mutation, and increased risk of AMD (odds ratio (OR)=1.70, P=5.60 × 10(-22)). 25629512 2015
dbSNP: rs2303790
rs2303790
Entrez Id: 1071
Gene Symbol: CETP
CETP
CUI: C0242383
Disease:
Age related macular degeneration
0.020 GeneticVariation BEFREE Among them, CETP (rs3764261/rs2303790) and ABCG1 (rs57137919) were the major susceptibility genes for PCV in Asian population and ABCG1 (rs57137919) showed allelic diversity between PCV and AMD. 29977615 2018
dbSNP: rs5882
rs5882
Entrez Id: 1071
Gene Symbol: CETP
CETP
CUI: C0242383
Disease:
Age related macular degeneration
0.010 GeneticVariation BEFREE Our study identified two polymorphisms with a higher risk of AMD development (rs5882 and rs708272) and a protective polymorphism for AMD (rs3764261). 28918250 2017
dbSNP: rs708272
rs708272
Entrez Id: 1071
Gene Symbol: CETP
CETP
CUI: C0242383
Disease:
Age related macular degeneration
0.010 GeneticVariation BEFREE Our study identified two polymorphisms with a higher risk of AMD development (rs5882 and rs708272) and a protective polymorphism for AMD (rs3764261). 28918250 2017
dbSNP: rs5882
rs5882
Entrez Id: 1071
Gene Symbol: CETP
CETP
CUI: C0494463
Disease:
Alzheimer Disease, Late Onset
0.020 GeneticVariation BEFREE Using data from two ongoing epidemiologic clinical-pathologic cohort studies of aging and dementia in the United States, the Religious Order Study and the Memory and Aging Project, we evaluated the association of the CETP I405V polymorphism (rs5882) with cognitive decline and risk of incident AD in more than 1300 participants of European ancestry. 22122979 2012
dbSNP: rs5882
rs5882
Entrez Id: 1071
Gene Symbol: CETP
CETP
CUI: C0494463
Disease:
Alzheimer Disease, Late Onset
0.020 GeneticVariation BEFREE We conclude that CETP I405V is associated with preserved cognition over time but is not associated with LOAD status. 25260850 2015
dbSNP: rs5882
rs5882
Entrez Id: 1071
Gene Symbol: CETP
CETP
CUI: C0002395
Disease:
Alzheimer's Disease
0.070 GeneticVariation BEFREE In the present study, we investigated the association of four CETP SNPs (D442G, L296Q, Taq1B and I405V) with the risk for sporadic AD in Northern Han-Chinese. 18036514 2008
dbSNP: rs5882
rs5882
Entrez Id: 1071
Gene Symbol: CETP
CETP
CUI: C0002395
Disease:
Alzheimer's Disease
0.070 GeneticVariation BEFREE The CETP I405V polymorphism is associated with an increased risk of Alzheimer's disease. 22122979 2012
dbSNP: rs5882
rs5882
Entrez Id: 1071
Gene Symbol: CETP
CETP
CUI: C0002395
Disease:
Alzheimer's Disease
0.070 GeneticVariation BEFREE To test the hypothesis that a single-nucleotide polymorphism (SNP) at CETP codon 405 (isoleucine to valine V405; SNP rs5882) is associated with a lower rate of memory decline and lower risk of incident dementia, including Alzheimer disease (AD). 20068209 2010
dbSNP: rs5882
rs5882
Entrez Id: 1071
Gene Symbol: CETP
CETP
CUI: C0002395
Disease:
Alzheimer's Disease
0.070 GeneticVariation BEFREE We investigated the effect of three putative functional CETP polymorphisms (-1946 VNTR, C-629A and I405V) on the risk of Alzheimer's disease (AD) and on cholesterol, lathosterol and 24S-hydroxycholesterol levels in CSF and plasma of AD patients and controls. 18680734 2008
dbSNP: rs5882
rs5882
Entrez Id: 1071
Gene Symbol: CETP
CETP
CUI: C0002395
Disease:
Alzheimer's Disease
0.070 GeneticVariation BEFREE CETP I405V polymorphism is likely a risk factor for AD and VaD in our cohort, independent of APOEɛ4 status. 29332048 2018
dbSNP: rs5882
rs5882
Entrez Id: 1071
Gene Symbol: CETP
CETP
CUI: C0002395
Disease:
Alzheimer's Disease
0.070 GeneticVariation BEFREE Two alleles in cholesteryl ester transfer protein (CETP) gene polymorphisms have been disputably linked to enhanced cognition and decreased risk of Alzheimer's disease (AD): the V and A alleles of I405V and C-629A. 21892657 2012
dbSNP: rs5882
rs5882
Entrez Id: 1071
Gene Symbol: CETP
CETP
CUI: C0002395
Disease:
Alzheimer's Disease
0.070 GeneticVariation BEFREE Our results suggest that the VV genotype of the I405V polymorphism of the CETP gene increases the risk of AD in the absence of the APOE*4 allele, probably through a cholesterol metabolism pathway in the brain. 17503098 2007
dbSNP: rs2303790
rs2303790
Entrez Id: 1071
Gene Symbol: CETP
CETP
CUI: C0002395
Disease:
Alzheimer's Disease
0.010 GeneticVariation BEFREE Our current results suggest that G allele of CETP D442G may have a potential protective effect against the development of AD, especially in APOE epsilon4 carriers, in Northern Han-Chinese, possibly through regulating the HDL level in the brain. 18036514 2008
dbSNP: rs5882
rs5882
Entrez Id: 1071
Gene Symbol: CETP
CETP
CUI: C0003467
Disease:
Anxiety
0.010 GeneticVariation BEFREE CETP variants that included G alleles of I422V and TaqIB were mostly associated with less intense frontally mediated behaviors, while severely impaired carriers of the T allele of rs2695121 had more anxiety and more aberrant motor behavior. 28099631 2017