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| Status |
Public on Dec 18, 2008 |
| Title |
Atherosclerotic markers in human blood - a study in patients with familial hypercholesterolemia |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
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| Summary |
Atherosclerosis is characterized by thickening of the arterial wall and is the primary cause of the coronary artery disease and cerebrovascular disease, two of the most common causes of illness and death worldwide. One of the leading risk factors for development of atherosclerosis is familial hypercholesterolemia. Familial hypercholesterolemia is an autosomal dominant disorder, which is caused by mutations mainly located in the low-density lipoprotein receptor (LDLR) gene. It is characterized by elevated levels of low-density lipoprotein cholesterol, the presence of tendon xanthomas, and premature cardiovascular disease. Aim of this study was to find atherosclerotic markers in white blood cells of patients compared to healthy controls. None of these patients exhibited symptoms of atherosclerosis by standard diagnostic methods; however, transcriptome analysis of blood RNA indicated changes in ubiquitin proteolysis and cell adhesion system as expected in initiation steps of atherosclerosis.
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| Overall design |
Five patients diagnosed with Familial hypercholesterolemia and five age, sex, BMI and smoking status matched controls contributed blood from which total RNA from white blood cells was isolated. RNA samples were analyzed using Affymetrix microarrays and two groups were compared for differentially expressed genes.
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| Contributor(s) |
Režen T, Cvikl A, Brecelj N, Rozman D, Keber I, Fon Tacer K |
| Citation missing |
Has this study been published? Please login to update or notify GEO. |
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| Submission date |
Dec 16, 2008 |
| Last update date |
Mar 25, 2019 |
| Contact name |
Peter Juvan |
| Phone |
+386 1 543 7595
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| Organization name |
Faculty of Medicine, University of Ljubljana
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| Department |
Institute of Biochemistry
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| Lab |
Center for Functional Genomics and Bio-Chips
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| Street address |
Zaloska 4
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| City |
Ljubljana |
| ZIP/Postal code |
SI-1000 |
| Country |
Slovenia |
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| Platforms (1) |
| GPL570 |
[HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array |
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| Samples (10)
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| Relations |
| BioProject |
PRJNA110247 |
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