rs2303790

This is a variant in the CETP gene that changes a aspartate to an glycine.

▶

GWAS Catalog Trait Associations (3)

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

high density lipoprotein cholesterol measurement

Moon S et al. “The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.” Scientific Reports 9(1):1382 (2019)
Allele G
OR 0.10
p 1.0e-32
N 6,949
Large GWAS
East Asian
Jeon S et al. “Korea4K: whole genome sequences of 4,157 Koreans with 107 phenotypes derived from extensive health check-ups.” Gigascience 13 (2024)
Allele G
OR 0.50
p 5.0e-14
N 2,317
Large GWAS
East Asian

HDL cholesterol change measurement

Tang CS et al. “Exome-wide association analysis reveals novel coding sequence variants associated with lipid traits in Chinese.” Nature Communications 6:10206 (2015)
Allele G
OR 0.44
p 3.0e-29
N 12,685
Large GWAS
East Asian
▶

ClinVar annotation

Uncertain Significance★★★☆
4 submitters21 publications

Hyperalphalipoproteinemia 1 (HALP1)

View on ClinVar →
▶

Research that mentions this SNP (1)

▶
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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…