scholarly journals TRPM2, PDLIM5, BCL3, CD14, GBA Genes as Feasible Markers for Premature Coronary Heart Disease Risk

2021 ◽  
Vol 12 ◽  
Author(s):  
Kriengchai Prasongsukarn ◽  
Wilanee Dechkhajorn ◽  
Surachet Benjathummarak ◽  
Yaowapa Maneerat
Keyword(s):  
Coronary Heart Disease ◽  
Heart Disease ◽  
Disease Risk ◽  
Genetic Disorder ◽  
Low Density Lipoprotein ◽  
Preliminary Investigation ◽  
Density Lipoprotein ◽  
Sequencing Analysis ◽  
Premature Coronary Heart Disease ◽  
Premature Cardiovascular Disease

Background: Beyond non-genetic risk factors, familial hypercholesterolemia (FH) plays a major role in the development of CHD. FH is a genetic disorder characterized by heritable and severely elevated levels of low-density lipoprotein (LDL) cholesterol, which can lead to premature cardiovascular disease, particularly familial coronary heart disease (FH-CHD).Method: To explore genes indicating a risk of familial (premature) coronary heart disease (FH-CHD) development in FH, 30 Thai male volunteers were enrolled: 7 healthy controls (N), 6 patients with hypercholesterolemia (H), 4 with FH, 10 with CHD, and 3 with FH-CHD. Transcriptome data were investigated using next-generation sequencing analysis in whole blood (n = 3). Genes that were significantly expressed in both FH and FH-CHD, but not in N, H, and CHD groups, were selected and functionally analyzed.Results: The findings revealed that 55 intersecting genes were differentially expressed between FH and FH-CHD groups. Ten of the 55 genes (MAPK14, TRPM2, STARD8, PDLIM5, BCL3, BLOC1S5, GBA, RBMS1, CD14, and CD36 were selected for validation. These 10 genes play potential roles in chronic inflammation and are involved in pathways related to pathogenesis of CHD. Using quantitative real-time PCR, we evaluated the mRNA expression of the selected genes in all 30 volunteers. TRPM2, PDLIM5, BCL3 were significantly upregulated and GBA was significantly downregulated in both FH and FH-CHD compared with the N, H, and CHD groups.Conclusion: our preliminary investigation reveals that the TRPM2, PDLIM5, BCL3, and GBA genes may have potential for further development as predictive markers for FH-CHD.

Isolation of plasma small-dense low-density lipoprotein using a simple air-driven ultracentrifuge and quantification using immunassay of apolipoprotein B

2004 ◽  
Vol 42 (1) ◽  
Author(s):  
Valentine C. Menys ◽  
Yifen Liu ◽  
Michael I. Mackness ◽  
See Kwok ◽  
Muriel J. Caslake ◽  
...  
Keyword(s):  
Coronary Heart Disease ◽  
Heart Disease ◽  
Coronary Heart Disease Risk ◽  
Apolipoprotein B ◽  
Disease Risk ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Low Density ◽  
Heart Disease Risk

AbstractSmall-dense low-density lipoprotein (SD-LDL) is associated with coronary heart disease risk. Current methods for its quantification are expensive, complex and time-consuming. Plasma was adjusted to a density (D) of 1.044 g/ml in a volume of 0.18 ml and centrifuged in a Beckman Airfuge at 160 000×

Familial hypercholesterolaemia

2020 ◽  
pp. 343-348
Author(s):  
Perry Elliott ◽  
Pier D. Lambiase ◽  
Dhavendra Kumar
Keyword(s):  
Coronary Heart Disease ◽  
Heart Disease ◽  
Inborn Error ◽  
Familial Hypercholesterolaemia ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Low Density ◽  
Clinical Criteria ◽  
Premature Coronary Heart Disease ◽  
Coronary Artery Atherosclerosis

Familial hypercholesterolaemia (FH) is an inborn error of metabolism that leads to accumulation of low-density lipoprotein cholesterol (LDL-C) particles in the blood and premature coronary artery atherosclerosis. This chapter covers the clinical criteria for the diagnosis of FH, the genetics that underpins the condition, cascade testing, premature coronary heart disease, and treatment methods.

scholarly journals The utility of MLPA in Familial Hypercholesterolemia diagnosis

2021 ◽  
Vol 67 (3) ◽  
pp. 162-166
Author(s):  
George Valeriu Moldovan ◽  
Adina Huțanu ◽  
Liliana Demian ◽  
Laszlo Hadadi ◽  
Bogdan Mănescu ◽  
...  
Keyword(s):  
Coronary Heart Disease ◽  
Heart Disease ◽  
Familial Hypercholesterolemia ◽  
Copy Number ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Copy Number Variations ◽  
Lipoprotein Cholesterol ◽  
Low Density ◽  
Premature Coronary Heart Disease

Abstract Background: Familial Hypercholesterolemia (FH) is an inherited disease, associated with an increased risk of atherosclerosis, manifested clinically as premature coronary heart disease. FH is biochemically characterized by increased Cholesterol and Low-density Lipoprotein Cholesterol serum levels. The diagnosis is often made using clinical scores however, the definitive FH diagnosis should point out the underlying molecular change, which can be: a point mutation within the three major genes, a number of single nucleotide polymorphisms determining the polygenic etiology, or copy number variations in the Low-density lipoprotein receptor gene. Objective: In the present study we investigated copy number variations as a possible etiological factor for FH in a cohort of patients with documented premature coronary heart disease. Methods: The study population consisted of 150 patients with premature coronary heart disease documented by angiography, all being under lipid-lowering therapy, and 20 apparently healthy controls. Serum lipids were assessed using the Cobas Integra 400 plus and commercial reagents. Copy number variations were evaluated with the SALSA MLPA Probemix P062 LDLR kit. Results: Cholesterol, Triglycerides, Low-density Lipoprotein Cholesterol and High-density Lipoprotein Cholesterol showed no difference between patients and controls. No copy number variations were detected in the investigated regions, namely all 18 exons and the promoter region of the Low-density lipoprotein receptor gene. Conclusions: Even in the presence of negative results, the Familial Hypercholesterolemia genetic diagnosis has to be further pursued in the presence of a clinical diagnosis, as the identification of the molecular etiology may bring additional clinical and therapeutical benefits, as well as open the possibility for “cascade screening”.

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