Cholesteryl Ester Transfer Protein, Plasma

Alternative Names

  • CETP
  • Lipid Transfer Protein I

Associated Diseases

Hyperalphalipoproteinemia 1
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OMIM Number

118470

NCBI Gene ID

1071

Uniprot ID

P11597

Length

21,896 bases

No. of Exons

17

No. of isoforms

2

Protein Name

Cholesteryl ester transfer protein

Molecular Mass

54756 Da

Amino Acid Count

493

Genomic Location

chr16:56,961,949-56,983,844

Gene Map Locus
16q13

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NC_000016.10:g.56959412C>ALebanonNC_000016.10:g.56959412C>AAssociationNG_008952.1:g.2490C>A; NC_000016.10:g.56959412C>A3764261162176

Other Reports

Egypt

Hamdy et al. (2002) screened the DCP1, CETP, ADRB2, and HTR2A gene in 242 unrelated Egyptian subjects to determine the frequencies of the allelic variants.  The frequencies of the DCP1 for 242 samples were; 32% for the I allele, and 68% for the D allele.  The genotype distribution for the CETP Taq1 variants B1B1, B1B2 and B2B2 were 44%, 43% and 13% respectively.  The frequencies for Gly16 and Glu27 variants for the ADRB2 gene were found to be 0.43 and 0.24, respectively.  The allele frequencies for the HTR2A gene were 0.53 for the T102 allele and 0.47 for the C102 allele.  These results may be helpful with angiotensin-converting enzyme inhibition and therapy, also in isoprenaline and clozapine response.

Jordan

Yehya et al. (2013) determined allele and genotype frequencies of the rs1532624 SNP of the (CETP) gene among 116 Jordanians.  Genotype frequencies of the homozygous minor allele (AA), the homozygous major allele (CC), and the heterozygous allele (CA) were 0.121, 0.405, and 0.474, respectively. The minor allele (A) frequency was 0.358.  The tested population comprised patients treated with Statins, and the aim was to establish the impact of the genotypes on response to Statin therapy.  The homozygous minor allele subjects have higher base line HDL-C, and lower CETP activity than the other genotypes (CA and CC). They also have less reduction in total cholesterol and LDL-C after Statin therapy.

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