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Genome-wide Association Studies-GWAS

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.
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Principles of Pharmacogenetics: Types of Genetic Variants

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...

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Related Experiment Video

Updated: Mar 23, 2026

The Use of Reverse Phase Protein Arrays RPPA to Explore Protein Expression Variation within Individual Renal Cell Cancers

The Use of Reverse Phase Protein Arrays RPPA to Explore Protein Expression Variation within Individual Renal Cell Cancers

Published on: January 22, 2013

Monogenic and Polygenic Risk for Kidney Cancer in Two Large Biobanks.

Jun Wei¹, Ashley J Mulford², Zhuqing Shi¹

¹Program for Genomic Translational Research, Endeavor Health, Evanston, IL, USA.

European Urology Oncology

|March 21, 2026

Summary

This summary is machine-generated.

Polygenic risk scores (PRS) combined with pathogenic variants (PVs) offer a more comprehensive assessment of kidney cancer risk. This genetic risk stratification can identify high-risk individuals for earlier screening and prevention strategies.

Keywords:

Germline Kidney cancer Renal cell carcinoma (RCC)

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Area of Science:

Genetics
Oncology
Epidemiology

Background:

Kidney cancer risk is influenced by both rare pathogenic variants (PVs) in specific genes and common genetic factors measured by polygenic risk scores (PRS).
The combined impact of PVs and PRS on kidney cancer risk in the general population is not well understood.

Purpose of the Study:

To investigate the joint contributions of PVs in hereditary renal cell carcinoma (RCC) genes and PRS to kidney cancer risk.
To evaluate the effectiveness of combining these genetic factors for improved kidney cancer risk stratification.

Main Methods:

Analysis of two large cohorts (UK Biobank and Genomic Health Initiative) including over 470,000 participants.
Utilized Cox proportional hazards models to assess associations between PVs, PRS, and kidney cancer incidence.
Evaluated the predictive performance of genetic risk factors when added to clinical risk factors.

Main Results:

Aggregated PVs in core RCC genes were associated with kidney cancer risk, while PVs in other cancer-susceptibility genes were not.
PRS significantly correlated with kidney cancer risk, indicating higher hazards and earlier diagnosis accumulation.
Individuals with high PRS but no PVs had higher absolute incidence rates than PV carriers with low PRS.
Combining genetic risk factors with clinical factors improved kidney cancer risk discrimination.

Conclusions:

PRS significantly complements monogenic PVs in assessing kidney cancer genetic risk.
The combination of PVs and PRS provides a more complete risk assessment than either factor alone.
Integrating genetic risk factors may enhance early screening and prevention strategies for kidney cancer.