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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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...
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...
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...
Acute Kidney Injury IV: Diagnostic Studies and Prevention01:30

Acute Kidney Injury IV: Diagnostic Studies and Prevention

Accurate diagnosis and effective prevention are critical in managing Acute Kidney Injury (AKI), which is linked to high mortality rates ranging from 10% to 80%. Timely recognition of at-risk patients and careful monitoring can significantly reduce the likelihood of kidney damage.Diagnostic Assessments:The diagnostic process starts with a comprehensive medical history to identify prerenal, intrarenal, and postrenal causes.Prerenal causes, such as dehydration, hypotension, or blood loss, should...

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Related Experiment Video

Updated: Jul 13, 2026

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
07:35

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring

Published on: June 23, 2015

Scoping Review of Polygenic Risk Scores in Kidney-Related Traits.

Yuka Sugawara1, Kaoru Ito2,3, Masao Iwagami4

  • 1Division of Nephrology and Endocrinology, The University of Tokyo, Tokyo, Japan.

Kidney International Reports
|July 12, 2026
PubMed
Summary

Polygenic risk scores (PRS) and genetic risk scores (GRS) show promise in nephrology for predicting kidney diseases. However, challenges like ancestry imbalance and modest predictive performance need addressing for broader clinical use.

Keywords:
albuminuriachronic kidney diseasegenetic risk scoregenetic scorepolygenic risk scoreproteinuria

Related Experiment Videos

Last Updated: Jul 13, 2026

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
07:35

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring

Published on: June 23, 2015

Area of Science:

  • Genetics
  • Nephrology
  • Genomic Epidemiology

Background:

  • Genome-wide association studies (GWAS) identify genetic loci for diseases and traits.
  • Polygenic risk scores (PRS) and genetic risk scores (GRS) aggregate effects of variants.
  • Application of PRS/GRS in nephrology is growing, but systematic reviews are lacking.

Purpose of the Study:

  • To systematically review the implementation and performance of PRS and GRS in nephrology.
  • To summarize the current landscape of genetic risk scores for kidney traits and diseases.

Main Methods:

  • Systematic literature search of PubMed, Embase, Scopus, and Web of Science.
  • Inclusion of studies developing or evaluating PRS/GRS for kidney-related traits.
  • Data extraction on study characteristics, score construction, and performance metrics.

Main Results:

  • 104 studies evaluated 129 unique PRS/GRS, primarily for chronic kidney disease (CKD) and estimated glomerular filtration rate (eGFR).
  • Key challenges identified include significant ancestry imbalance (predominantly European ancestry), modest incremental predictive performance for CKD, and trait mismatches.
  • Limited studies explored outcomes like albuminuria, eGFR slope, end-stage kidney disease (ESKD), and acute kidney injury (AKI).

Conclusions:

  • Clinical utility of PRS/GRS in nephrology is context-dependent.
  • Enhancing translational potential requires improved population diversity, precise phenotype definition, and methodological standardization.