scholarly journals A single nucleotide polymorphism in the 3-hydroxy-3-methylglutaryl-coenzyme A reductase gene (HMGCR) influences the serum triacylglycerol relationship with dietary fat and fibre in the European Prospective Investigation into Cancer and Nutrition in Norfolk (EPIC-Norfolk) study

2010 ◽  
Vol 104 (5) ◽  
pp. 765-772 ◽  
Author(s):  
Renata N. Freitas ◽  
Kay-Tee Khaw ◽  
Kelvin Wu ◽  
Richard Bowman ◽  
Hannah Jeffery ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Dietary Fat ◽  
Serum Lipids ◽  
Coenzyme A ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Fibre Intake ◽  
Reductase Gene ◽  
Control Serum ◽  
Coenzyme A Reductase

The objective of the present study was to investigate the influence of the single nucleotide polymorphism (rs17238540) at the 3-hydroxy-3-methylglutaryl-coenzyme A reductase gene (HMGCR) on the relationship between serum lipids and dietary fat and fibre (NSP). FFQ and pyrosequencing were used to assess cross-sectional dietary intake andHMGCRgenotype in a population study with data for serum lipids available. Genotype frequencies and allele distributions for 23 011 participants were: TT 95·65 %, TG 4·29 % and GG 0·06 %; T 97·8 % and G 2·2 %. In regression analyses, the TG+GG group showed a significant positive relationship between TAG and SFA intake (+0·11 (95 % CI 0·02, 0·20) mmol TAG/l;P = 0·017; per 3 % SFA energy increase) while the TT individuals showed no change in the TAG levels related to SFA intake ( − 0·0007 (95 % CI − 0·02, 0·02) mmol TAG/l;P = 0·99). TG+GG individuals showed an inverse relationship between TAG and fibre intake higher ( − 0·14 (95 % CI − 0·22, − 0·05) mmol TAG/l than the TT group ( − 0·04 (95 % CI − 0·06, − 0·02) mmol TAG/l). In both cases the respective coefficient regressions of TAG were different between the genotype groups (Z = 2·27,P = 0·023 for SFA intake; Z = 2·19,P = 0·029 for fibre intake). Individuals carrying the G allele may show a greater response in lower TAG levels with reduced SFA intake and increased fibre intake compared with those homozygous for the T allele. The effectiveness of different dietary interventions to control serum lipids may vary according toHMGCRgenotype.

scholarly journals Effect of Single Nucleotide Polymorphism rs1044925 in Acyl-CoA: Cholesterol Acyltransferase-1 Gene on Plasma Lipid Parameters in Patients with Ischemic Stroke

2021 ◽  
pp. 41-52
Author(s):  
Johnson Oshiobugie Momoh
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Ischemic Stroke ◽  
Coenzyme A ◽  
Cholesterol Acyltransferase ◽  
Plasma Lipid ◽  
Lipid Profiles ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Acyl Coenzyme A ◽  
Lipid Parameters

Acyl-coenzyme A: cholesterol acyltransferase-1 (ACAT-1) catalyzes the synthesis of cholesteryl esters from cholesterol and fatty acyl-CoA in tissues and the enzyme plays a major role in atherosclerosis and cellular cholesterol homeostasis. The study shows the effect of single nucleotide polymorphism rs1044925 in acyl-CoA:cholesterol acyltransferase-1 gene on plasma lipid parameters in patients with ischemic stroke. 100 patients with ischemic stroke and 100 controls matched for sex and aged 46-87 were selected for the study. Lipid profiles were measured using Randox kits and lipoprotein ratios were calculated using Excel software. The genotyping of the acyl-coenzyme A: cholesterol acyltransferase-1 rs1044925 SNP were performed by Polymerase Chain Reaction and Restriction Fragment Length Polymorphism (PCR-RFLP) combined with 2% gel electrophoresis. There were significant difference (P<0.05) in the genotypic and allelic frequencies of ACAT-1 rs1044925 SNP between the normolipidemic and patients with ischemic stroke. The frequencies of AC, CC and AA genotypes of the ACAT-1 gene were 33%, 3% and 64% for the control and 57%, 5% and 38%, for the stroke subjects respectively. The frequencies of C and A alleles were 19.50% and 80.50% for the control and 33.50% and 66.50% for the ischemic stroke subjects (P < 0.0001) respectively. The effects of genotypes on plasma lipid profiles and lipoprotein ratios were found for both control and stroke subjects. The A allele carriers of ACAT-1 rs1044925 SNP had lower plasma TG, TC, VLDL-C and other lipid parameters as compared to the C allele carriers for both subjects. The C allele carriers were responsible for the increase in dyslipidemia for both subjects. The results of this study show that the polymorphism of rs1044925 in the ACAT-1 gene as effect on plasma lipid profiles and lipoprotein ratios in ischemic stroke patients.

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