Gene: CETP
Alternate names for this Gene: BPIFF|HDLCQ10
Gene Summary: The protein encoded by this gene is found in plasma, where it is involved in the transfer of cholesteryl ester from high density lipoprotein (HDL) to other lipoproteins. Defects in this gene are a cause of hyperalphalipoproteinemia 1 (HALP1). Two transcript variants encoding different isoforms have been found for this gene.
Gene is located in Chromosome: 16
Location in Chromosome : 16q13
Description of this Gene: cholesteryl ester transfer protein
Type of Gene: protein-coding
rs17231506 in
CETP gene and
Age related macular degeneration
PMID 26691988 2016 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
PMID 23455636 2013 Seven new loci associated with age-related macular degeneration.
rs12691052 in
CETP gene and
Asthma
PMID 25918132 2015 Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma.
rs7203984 in
CETP gene and
Body Height
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs11508026 in
CETP gene and
C-reactive protein measurement
PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.
rs1532624 in
CETP gene and
Cholesterol measurement test
PMID 20066028 2010 Modeling of environmental effects in genome-wide association studies identifies SLC2A2 and HP as novel loci influencing serum cholesterol levels.
rs117427818 in
CETP gene and
Cholesteryl Ester Transfer Protein Measurement
PMID 29728394 2018 CETP (Cholesteryl Ester Transfer Protein) Concentration: A Genome-Wide Association Study Followed by Mendelian Randomization on Coronary Artery Disease.
rs1800775 in
CETP gene and
Coronary Artery Disease
PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.
rs1532624 in
CETP gene and
Coronary heart disease
PMID 21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
rs17231506 in
CETP gene and
Exudative age-related macular degeneration
PMID 26691988 2016 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
PMID 25629512 2015 New loci and coding variants confer risk for age-related macular degeneration in East Asians.
rs17231506 in
CETP gene and
Geographic Atrophy
PMID 26691988 2016 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
rs142459781 in
CETP gene and
HYPERALPHALIPOPROTEINEMIA 1
PMID 12091484 2002 Two novel missense mutations in the CETP gene in Japanese hyperalphalipoproteinemic subjects: high-throughput assay by Invader assay.
PMID 8408659 1993 A missense mutation in the cholesteryl ester transfer protein gene with possible dominant effects on plasma high density lipoproteins.
PMID 2215607 1990 Increased high-density lipoprotein levels caused by a common cholesteryl-ester transfer protein gene mutation.
rs11076174 in
CETP gene and
High density lipoprotein measurement
PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.
PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
PMID 22629316 2012 Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.
PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
PMID 21909109 2011 Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
PMID 30718733 2019 The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.
PMID 23505323 2013 Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
PMID 30911093 2019 Genome-wide association study of blood lipids in Indians confirms universality of established variants.
PMID 21589926 2011 Knowledge-driven multi-locus analysis reveals gene-gene interactions influencing HDL cholesterol level in two independent EMR-linked biobanks.
PMID 19060911 2009 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
PMID 31551469 2019 Genetic architecture of human plasma lipidome and its link to cardiovascular disease.
PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.
PMID 23236364 2012 Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations.
PMID 23696881 2013 Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation.
PMID 20031564 2009 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 18193044 2008 Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
PMID 29404214 2018 Gene-based association study for lipid traits in diverse cohorts implicates BACE1 and SIDT2 regulation in triglyceride levels.
PMID 24023260 2013 Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels.
PMID 17463246 2007 Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.
PMID 26879886 2016 A common variant association study reveals novel susceptibility loci for low HDL-cholesterol levels in ethnic Arabs.
PMID 18193046 2008 Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides.
PMID 18193043 2008 Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
PMID 30108155 2018 Genome-wide association study identifies novel recessive genetic variants for high TGs in an Arab population.
PMID 28548082 2017 Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits.
PMID 29404214 2018 Two previously implicated loci met genome-wide significance in our SNP-level GWAS in the Nigerian cohort, rs34065661 in <i>CETP</i> associated with HDL cholesterol (<i>P</i> = 9.0 × 10<sup>-10</sup>) and rs1065853 upstream of <i>APOE</i> associated with LDL cholesterol (<i>P</i> = 6.6 × 10<sup>-9</sup>).
PMID 31675503 2019 Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa.
PMID 24507774 2014 Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.
PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.
PMID 24886709 2014 Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.
PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.
PMID 30576415 2019 Very low-depth whole-genome sequencing in complex trait association studies.
PMID 26780889 2016 Meta-analysis of lipid-traits in Hispanics identifies novel loci, population-specific effects, and tissue-specific enrichment of eQTLs.
PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
rs1532624 in
CETP gene and
Lipids measurement
PMID 19936222 2009 Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
rs12708979 in
CETP gene and
Low density lipoprotein cholesterol measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.
rs9939224 in
CETP gene and
Metabolic Syndrome X
PMID 21386085 2011 A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.
rs11076175 in
CETP gene and
Pseudocholinesterase Measurement
PMID 21943158 2011 Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
rs11076174 in
CETP gene and
Serum HDL cholesterol measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
PMID 22629316 2012 Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.
PMID 21909109 2011 Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
PMID 23505323 2013 Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
PMID 21589926 2011 Knowledge-driven multi-locus analysis reveals gene-gene interactions influencing HDL cholesterol level in two independent EMR-linked biobanks.
PMID 19060911 2009 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
PMID 23236364 2012 Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations.
PMID 20031564 2009 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 18193044 2008 Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
PMID 23696881 2013 Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation.
PMID 18193046 2008 Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides.
PMID 18193043 2008 Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
PMID 24886709 2014 Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.
rs12708979 in
CETP gene and
Serum LDL cholesterol measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
rs11076175 in
CETP gene and
Serum albumin measurement
PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
rs11076174 in
CETP gene and
Serum total cholesterol measurement
PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
PMID 24886709 2014 Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.
PMID 20066028 2010 Modeling of environmental effects in genome-wide association studies identifies SLC2A2 and HP as novel loci influencing serum cholesterol levels.
PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.
PMID 24023260 2013 Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels.
PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.
PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
rs11508026 in
CETP gene and
Triglycerides measurement
PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.
PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
PMID 17463246 2007 Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.
PMID 19060911 2009 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.
rs17231506 in
CETP gene and
exudative macular degeneration
PMID 26691988 2016 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
PMID 25629512 2015 New loci and coding variants confer risk for age-related macular degeneration in East Asians.