Common genetic variants that relate to disorders of lipid transport in Spanish subjects with premature coronary artery disease

2001 ◽  
Vol 100 (2) ◽  
pp. 183-190 ◽  
Author(s):  
Ll. MASANA ◽  
G. FEBRER ◽  
J. CAVANNA ◽  
M. G. BARONI ◽  
W. MARZ ◽  
...  

Fifteen common polymorphic variants at six loci (apolipoproteins AI, B, CIII and E, hepatic lipase and lipoprotein lipase) involved in plasma lipid transport have been studied in 210 northern Spanish men, of whom 98 had proven coronary artery disease. The other 112 men were clinically free from coronary artery disease and acted as controls. The genotypes were investigated for relationships with plasma lipid and lipoprotein levels, as well as for the presence of coronary artery disease. As expected, the mean levels of plasma triacylglycerols (triglycerides) and lipoprotein (a) and the number of smokers were significantly higher in the disease group, and high-density lipoprotein (HDL)-cholesterol was significantly lower. Surprisingly, plasma cholesterol and low-density lipoprotein cholesterol were not different between the two groups. With regard to the common mutations, plasma triacylglycerol levels were related to the HindIII variants of lipoprotein lipase (P < 0.05), to the apolipoprotein CIII variant (C3175G in exon 4) and to the apolipoprotein AI XmnI polymorphisms (P < 0.05 and P < 0.02 respectively). The apolipoprotein E variants were related to plasma cholesterol (P < 0.05), HDL-cholesterol (P < 0.02), plasma triacylglycerols (P < 0.05) and the triacylglycerol/HDL ratio (P < 0.01). Only the three-codon insertion/deletion variants of the apolipoprotein B signal peptide region discriminated between the two groups with or without arterial disease (P = 0.02). The possible functional effects of these common mutations are discussed.

1999 ◽  
Vol 123 (12) ◽  
pp. 1219-1222 ◽  
Author(s):  
I. Cetin Ozturk ◽  
Anthony A. Killeen

Abstract Background.—Coronary artery disease (CAD) is a major cause of morbidity and mortality in most Western countries and its origin involves a significant genetic component. Methods.—Genetic and epidemiologic studies have been performed to identify factors that influence the CAD risk in the population. Results.—The primary loci that have been demonstrated to be associated with increased CAD risk owing to genetic mutations include the low-density lipoprotein receptor, apolipoprotein B-100, and lipoprotein(a). Additional implicated loci include lipoprotein lipase, apolipoprotein CII, cholesteryl ester transfer protein, apolipoprotein AI, and lecithin–cholesterol acyl transferase. Conclusions.—Numerous mutations in known genes exert a major effect on CAD risk in some patients. However, in most patients with CAD, the genetic component is believed to be attributable to the aggregate effect of loci that, individually, exert only a minor influence on lipoprotein levels.


2020 ◽  
Vol 1 (3-4) ◽  
pp. 150-153
Author(s):  
Chandramukhi Sunehra ◽  
Krishnaswamy Raghu

A young, 18-year-old lady presented with history of chest pain on exertion typical of angina. General examination revealed multiple tendon xanthomas. Systemic examination was unremarkable. Electrocardiogram showed segment (ST) depression in inferior and lateral leads. Echocardiogram revealed normal left ventricular systolic function and no left ventricular regional wall motion abnormalities. Diastolic flow turbulence was noted in the left main coronary artery and proximal left anterior descending artery on color Doppler interrogation across the coronary arteries. Lipid profile showed unusually high total cholesterol and low-density lipoprotein cholesterol. Subsequent evaluation with coronary angiogram revealed triple vessel coronary artery disease. The patient underwent coronary artery bypass surgery and is on antiplatelet and lipid-lowering drug therapy.


2014 ◽  
Vol 04 (02) ◽  
pp. 094-097
Author(s):  
Deepti G. I. ◽  
Sukanya Shetty ◽  
Ashalatha V. Rao ◽  
Sarfraz Ahmad

Abstract: Background and objectives: Lipid disorder is a major risk factor for the progression of coronary artery disease. Age alone is a significant predictor of CVD risk in men and women. Before menopause, women have a much lower risk for cardiovascular events compared with men of their age. Reasons for protection from CVD in premenopausal women are complex, but a significant contribution can be assigned to the greater high-density lipoprotein (HDL) levels in younger women, which is an effect of estrogen. Methods: Fasting blood samples were collected from 40 healthy individuals (40 females divided into 2 groups according to age). Serum total cholesterol, triglycerides, and HDL- Cholesterol were estimated by enzymatic methods and LDL was calculated by Friedewald's equation. Results: The result showed increase in jyounger age group. Conclusion: It can be concluded that serum lipid profile changes can possibly be mediated by changing hormonal profile, especially estrogen which has role in lipid metabolism and indirectly on coronary artery disease.


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