Effects of a New Single-Nucleotide Polymorphism in the Acyl-CoA:Cholesterol Acyltransferase-2 Gene on Plasma Lipids and Apolipoproteins in Patients with Hyperlipidemia

Katsuren, Keisuke; Fukuyama, Shigeru; Takata, Kazuhide; Ohta, Takao

doi:10.5551/jat.10.32

Cited by 3 publications

(2 citation statements)

References 24 publications

(20 reference statements)

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“…The esterification of cholesterol in plasma by lecithin: cholesterol acyltransferase (LCAT) plays an important role in the intravascular maturation of lipoproteins, sepecially HDL. In contrast, intracellular cholesteryl ester synthesis, catalyzed by acyl-CoA:cholesterol acyltransferase (ACAT, E.C.2.3.1.26), also called sterol o -acyltransferase (SOAT), serves to store cholesterol in cytosolic droplets and also participates in the hepatic secretion of lipoproteins containing ApoB [23-26]. ACAT has found to be present as two isoforms, ACAT-1 and ACAT-2, with different intracellular localizations, membrane topology in mammalian species, and metabolic function for each enzyme [27-29].…”

Section: Introductionmentioning

confidence: 99%

Polymorphism of rs1044925 in the acyl-CoA:cholesterol acyltransferase-1 gene and serum lipid levels in the Guangxi Bai Ku Yao and Han populations

Yin

Aung

et al. 2010

Lipids Health Dis

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BackgroundThe association of rs1044925 polymorphism in the acyl-CoA:cholesterol acyltransferase-1 (ACAT-1) gene and serum lipid profiles is not well known in different ethnic groups. Bai Ku Yao is a special subgroup of the Yao minority in China. The present study was carried out to clarify the association of rs1044925 polymorphism in the ACAT-1 gene and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations.MethodsA total of 626 subjects of Bai Ku Yao and 624 participants of Han Chinese were randomly selected from our previous stratified randomized cluster samples. Genotyping of rs1044925 polymorphism in the ACAT-1 gene was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and then confirmed by direct sequencing.ResultsThe levels of serum total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), apolipoprotein (Apo) AI and ApoB were lower in Bai Ku Yao than in Han (P < 0.01 for all). The frequency of A and C alleles was 79.0% and 21.0% in Bai Ku Yao, and 87.3% and 12.7% in Han (P < 0.001); respectively. The frequency of AA, AC and CC genotypes was 63.2%, 31.4% and 5.2% in Bai Ku Yao, and 75.6%, 23.2% and 1.1% in Han (P < 0.001); respectively. The levels of TC, LDL-C and ApoB in Bai Ku Yao but not in Han were different between the AA and AC/CC genotypes in females but not in males (P < 0.05 for all). The C allele carriers had lower serum TC, LDL-C and ApoB levels as compared with the C allele noncarriers. The levels of TC, LDL-C and ApoB in Bai Ku Yao but not in Han were correlated with genotypes in females but not in males (P < 0.05 for all). Serum lipid parameters were also correlated with sex, age, body mass index, alcohol consumption, and blood pressure in both ethnic groups (P < 0.05-0.001).ConclusionsThese results suggest that the polymorphism of rs1044925 in the ACAT-1 gene is mainly associated with female serum TC, LDL-C and ApoB levels in the Bai Ku Yao population. The C allele carriers had lower serum TC, LDL-C and ApoB levels than the C allele noncarriers.

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Section: Introductionmentioning

confidence: 99%

Polymorphism of rs1044925 in the acyl-CoA:cholesterol acyltransferase-1 gene and serum lipid levels in the Guangxi Bai Ku Yao and Han populations

Yin

Aung

et al. 2010

Lipids Health Dis

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“…Mutations in exon 1 and intron 7 were not associated with plasma concentrations of lipids and apolipoproteins. Katsuren et al suggest that ACAT-2 may contribute to apolipoprotein CIII (apoC-III) gene expression and the assembly of apoC-III and tryglicerides (TG), possibly in the intestine [75]. These drugs inhibit intracellular mechanisms mediating the apoB-containing lipoprotein synthesis and secretion.…”

Section: Inhibitors Of Lipid Absorptionmentioning

confidence: 98%

Pharmacogenetics of Drugs Influencing Lipidic Metabolism

Ruano¹,

Fuentes²,

Pérez-Jiménez³

et al. 2005

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It is well recognized that most medications exhibit wide interindividual variability in their efficacy and toxicity. These differences may be due to genetic factors affecting the metabolism and action of these drugs, as well as to environmental factors. Genetic polymorphisms (SNPs and haplotypes) that may play a role in the differences in response to lipid lowering therapy have recently been identified, including genetic variants of apoproteins (apo AI, apo E, apo B), several enzymes (lipoprotein lipase, lecithin cholesterol acyl transferase, hepatic lipase), membrane transporters (ABCA1, ABCG5/8), and receptors (LDL cholesterol receptor). Clinical studies analysing relations between these genetic variants and the response to hypolipemiant drugs are exposed in this review.

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