rs708272

This is a intron variant variant in the CETP gene.

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GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

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ClinVar annotation

Benign★★★☆
3 submitters1 publication

Coronary artery disorder

View on ClinVar →
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Research that mentions this SNP (2)

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Limited use of interleukin 28B in the setting of response-guided treatment with detailed on-treatment virological monitoring
ReviewAlessandra Mangia et al.(2011)· Hepatology

This is a special issue of the Italian medical journal BeAdfiles (September 2012) dedicated to genetic conditioning in HIV and hepatitis virus infections. It reviews the major genetic polymorphisms that influence disease progression, treatment response, and drug toxicity in HIV and chronic hepatitis B and C infections, with particular emphasis on IL28B polymorphisms (rs809917 and others) predicting HCV treatment response to interferon-alpha and ribavirin therapy, and ITPA gene variants protecting against ribavirin-induced anemia. The issue also covers pharmacogenetic markers (CYP2B6, ABCB1, HLA-B*5701) and their clinical applications in antiretroviral therapy.

Traits studied:AIDS progressionAntiretroviral therapy toxicityChronic hepatitis C sustained virological responseCreutzfeldt-Jakob diseaseDyslipidemiaEfavirenz side effectsHIV infection and progressionHepatitis B virus infectionHepatitis C genotype 1 response to interferonHepatitis C virus infectionHyperbilirubinemiaLeprosyLipodystrophyNeisseria meningitidis infectionNorovirus diarrheaPlasmodium falciparum malariaPlasmodium vivax malariaRenal impairmentRibavirin-induced anemiaTreatment response to interferon and ribavirinTuberculosis
PubMedDOIMetascience Observatory
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Association of Cholesteryl Ester Transfer Protein Genotypes With CETP Mass and Activity, Lipid Levels, and Coronary Risk
Meta-analysisN=195,833Thompson A. et al.(2008)· JAMA

Systematic review of 92 lipid studies (113,833 participants) and 46 coronary disease studies (82,534 participants) examining CETP polymorphisms. TaqIB rs708272 A allele associated with 9.7% decreased CETP mass, 8.6% decreased CETP activity, 4.5% increased HDL-C (95% CI: 3.8%-5.2%), and weakly inverse association with coronary disease (OR 0.95, 95% CI: 0.92-0.99).

Traits studied:Apolipoprotein A-ICETP activityCETP massCoronary artery diseaseHDL cholesterol
PubMedDOIMetascience Observatory

About CETP

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. [provided by RefSeq, Oct 2013]

View all CETP variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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