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Related Concept Videos

Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation01:21

Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation

Clinical manifestationsPeripheral Arterial Disease (PAD) manifests through a range of symptoms, from the characteristic intermittent claudication to atypical presentations and severe complications in advanced stages. Intermittent claudication, a hallmark symptom of PAD, presents as exercise-induced muscle pain that typically resolves within minutes of rest. This pain is reproducible and stems from inadequate blood flow, leading to the accumulation of lactic acid produced during anaerobic...
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Peripheral artery disease (PAD) predominantly results from atherosclerosis, which involves the accumulation of fatty deposits, or plaques, within the walls of arteries. This causes them to narrow and harden, significantly reducing blood flow. PAD predominantly affects the legs, particularly the arteries supplying the thighs and calves. In rare cases, it may involve other arteries, including those in the arms.Etiology of PAD:The principal cause of PAD is atherosclerosis, which results from fatty...
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Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
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The pharmacogenetics of drug transporters is increasingly recognized as a critical factor influencing interindividual variability in drug absorption, distribution, and elimination. These membrane-bound proteins regulate drugs' movement across cellular barriers by actively pumping them out (efflux) or facilitating their uptake (influx). Among the major transporter families, ATP-binding cassette (ABC) and solute carrier (SLC) transporters play particularly prominent roles. Genetic polymorphisms...
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Peripheral Artery Disease III: Interprofessional Care

Peripheral Artery Disease (PAD) is characterized by narrowed arteries that diminish blood flow to the extremities. Effective management of PAD requires an interprofessional approach involving various healthcare professionals. The critical aspects of interprofessional care for PAD patients focus on risk factor modification, drug therapy, exercise therapy, nutrition therapy, critical limb ischemia care, and interventional radiology and surgical procedures.The primary treatment goal for PAD...
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Atherosclerosis II: Clinical Manifestations and Diagnostic Tests

Atherosclerosis is a progressive disorder that leads to the thickening and narrowing of arterial walls due to plaque buildup. This condition can cause various symptoms depending on the arteries affected:Coronary Artery Disease (CAD): This condition affects the coronary arteries and may lead to chest pain (angina), shortness of breath (dyspnea), heart attacks, and other heart disease symptoms.Cerebrovascular Disease: This affects blood flow to the brain, causing transient ischemic attacks (TIAs)...

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A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
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Scavenger receptor class B type I polymorphisms and peripheral arterial disease.

Andreas Ritsch1, Gudrun Sonderegger, Gudron Sonderegger

  • 1Department of Medicine, Innsbruck Medical University, A-6020 Innsbruck, and Department of Laboratory Medicine, Konventhospital Barmherzige Brueder, Linz, Austria. andreas.ritsch@uibk.ac.at

Metabolism: Clinical and Experimental
|July 10, 2007
PubMed
Summary

Genetic variations in the scavenger receptor class B type I (SR-BI) gene are linked to lipid levels and peripheral arterial disease (PAD) risk. Specific SCARB1 genotypes predict PAD in men and women, independent of traditional risk factors.

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Area of Science:

  • Genetics
  • Cardiovascular Disease
  • Molecular Biology

Background:

  • Genetic variations in scavenger receptor class B type I (SR-BI) influence lipid metabolism and cardiovascular health.
  • SR-BI plays a crucial role in cholesterol transport and has been implicated in coronary artery disease.
  • Peripheral arterial disease (PAD) is a significant manifestation of atherosclerosis with complex genetic underpinnings.

Purpose of the Study:

  • To investigate the association between single-nucleotide polymorphisms (SNPs) in the SR-BI gene (SCARB1) and the risk of peripheral arterial disease (PAD).
  • To determine if SCARB1 gene variants correlate with plasma lipid levels (total and LDL cholesterol) in patients with PAD.
  • To evaluate the predictive value of SCARB1 genotypes for PAD risk, considering sex-specific effects and traditional risk factors.

Main Methods:

  • Genotyping of three single-nucleotide polymorphisms (SNPs) within the SCARB1 gene.
  • Case-control study involving 354 patients with PAD and 354 matched controls.
  • Statistical analysis to assess associations between SCARB1 genotypes, lipid parameters, and PAD risk, including sex-specific analyses and adjustment for covariates.

Main Results:

  • SCARB1 combined genotypes (exon 1/intron 5/exon 8) were associated with plasma total and low-density lipoprotein cholesterol levels.
  • A significant PAD risk was observed in females carrying the common allele of exon 8 (OR=2.623, P=0.003).
  • The variant allele of intron 5 was a risk factor for PAD in males (OR=2.182, P=0.005).
  • The combined SCARB1 genotype (intron 5/exon 8) predicted PAD risk in the overall population (P=0.006), even after adjusting for traditional risk factors.

Conclusions:

  • SCARB1 gene polymorphisms are associated with both plasma lipid levels and the risk of developing peripheral arterial disease (PAD).
  • Specific SCARB1 genotypes confer differential risk for PAD in men and women.
  • SCARB1 genotype may serve as an independent genetic marker for PAD risk assessment.