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Related Concept Videos

Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

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...
Polygenic Traits01:18

Polygenic Traits

When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
Polygenic Traits01:18

Polygenic Traits

When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
Types of Biopharmaceutical Studies: Controlled and Non-Controlled Approaches01:23

Types of Biopharmaceutical Studies: Controlled and Non-Controlled Approaches

Biopharmaceutical studies constitute a vital field aiming to enhance drug delivery methods and refine therapeutic approaches, drawing upon diverse interdisciplinary knowledge. In research methodologies, the choice between controlled and non-controlled studies significantly influences the study's reliability and accuracy.
Non-controlled studies, commonly employed for initial exploration, lack a control group, rendering them susceptible to biases and external influences. In contrast, controlled...

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Related Experiment Video

Updated: Jun 13, 2026

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
07:26

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

Published on: July 18, 2017

Beyond Genotype: Multidomain Biomarker-Integrated Risk Scores Reveal Prognostic phenotypes Among Individuals with

George Vasquez-Rios1, Kinsuk Chauhan2, Nidhi Naik3

  • 1Glomerular and Genetic Diseases Center, Renal Medicine Associates, NM, USA.

Medrxiv : the Preprint Server for Health Sciences
|June 12, 2026
PubMed
Summary

Plasma biomarkers can predict kidney disease progression in individuals with high-risk APOL1 variants. This helps identify those at greater risk beyond genetic factors alone.

Related Experiment Videos

Last Updated: Jun 13, 2026

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
07:26

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

Published on: July 18, 2017

Area of Science:

  • Nephrology
  • Genetics
  • Biomarker Discovery

Background:

  • APOL1 high-risk variants increase kidney disease susceptibility in individuals of African ancestry.
  • A subset of carriers develops clinically significant kidney disease, indicating a gap between genetic risk and clinical outcomes.
  • Current prognostic tools inadequately reflect biological processes driving APOL1-associated kidney injury.

Purpose of the Study:

  • To investigate if plasma biomarkers of inflammation and tubular injury can identify biologically active disease states.
  • To improve prognostic stratification in individuals with high-risk APOL1 genotypes.
  • To explore novel biomarkers for APOL1-associated kidney disease.

Main Methods:

  • Followed 498 participants with two APOL1 high-risk alleles for a median of 6 years.
  • Measured baseline plasma biomarkers of inflammation and tubular injury (TNFR1, TNFR2, KIM-1, MCP-1, YKL-40, IL-18, suPAR).
  • Developed a weighted biomarker risk score and assessed associations with composite kidney outcomes (sustained eGFR decline or ESKD).

Main Results:

  • 16.1% of participants reached the composite outcome.
  • Higher concentrations of TNFR1, TNFR2, suPAR, KIM-1, and IL-18 were independently associated with kidney events.
  • Biomarker risk score categorized participants into low (7%), moderate (16%), and high (36%) risk groups for kidney events.

Conclusions:

  • Plasma biomarkers reveal heterogeneity in kidney outcomes among individuals with high-risk APOL1 genotypes.
  • A biology-weighted biomarker score identifies distinct prognostic phenotypes beyond genotype and traditional measures.
  • Supports multidomain biomarker frameworks for risk stratification and potential trial enrichment in APOL1-associated kidney disease.