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Related Concept Videos

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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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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...
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Pharmacogenetics and pharmacogenomics examine how genetic factors influence an individual's response to drugs. While pharmacogenetics focuses on the impact of specific genetic variants on drug effects, pharmacogenomics takes a broader approach, studying how genetic variation across populations contributes to differences in drug responses. These fields aim to explain why individuals may experience varying levels of efficacy or adverse reactions to the same medication.Variability in drug...
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Principles of Pharmacogenetics: Types of Genetic Variants01:27

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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: Apr 22, 2026

Application of Laser Microdissection to Uncover Regional Transcriptomics in Human Kidney Tissue
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Genome-Wide Dissection of Shared Genetic Architecture Between Kidney Function and Pulmonary Function.

Shiqi Su1, Nanyan Xiang1, Peiji Yao2

  • 1Department of Urology, Lab of Health Data Science, Innovation Institute for Integration of Medicine and Engineering, Frontiers Science Center for Disease-Related Molecular Network, Med-X Center for Manufacturing, West China Hospital, Sichuan University, Chengdu, Sichuan, China.

FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology
|April 20, 2026
PubMed
Summary

This study explored genetic links between kidney and lung function, finding shared genetic variants and causal relationships. Key genes involved in immune response and olfactory receptors highlight new therapeutic targets for comorbid conditions.

Keywords:
causal relationshipcross‐trait analysisgenetic epidemiologykidney functionlung function

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Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
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Area of Science:

  • Genetics
  • Pulmonology
  • Nephrology

Background:

  • Chronic kidney disease (CKD) and chronic obstructive pulmonary disease (COPD) frequently co-occur, but the underlying genetic mechanisms are poorly understood.
  • Understanding shared genetic factors is crucial for addressing multi-system comorbidities.

Purpose of the Study:

  • To investigate genetic correlations, shared variants, and causal relationships between kidney function traits (e.g., eGFRcrea, urate) and lung function traits (e.g., FVC, FEV1).
  • To identify key genes and biological pathways involved in kidney-lung interorgan communication.

Main Methods:

  • Genome-wide cross-trait analysis using data from UK Biobank and CKDGen Consortium (approx. 1 million participants).
  • Summary-based Mendelian randomization for causal inference.
  • Transcriptome-wide association, colocalization, and fine-mapping analyses to identify key genes.

Main Results:

  • Strong genetic correlation found between cystatin C-based estimated glomerular filtration rate (eGFRcys), urate, and forced vital capacity (FVC).
  • Causal analysis revealed a negative causal effect of FVC on urate and a positive causal effect of serum creatinine-based estimated glomerular filtration rate (eGFRcrea) on the FEV1/FVC ratio (RATIO).
  • Identified 13 key genes, including novel links for RF00017, ZNF391, CYP1A1, CYP1A2, OR2J2, and OR14J1, converging on immune response, endogenous compounds, developmental regulation, and olfactory receptors.

Conclusions:

  • Uncovered the genetic basis of kidney-lung interorgan communication.
  • Identified novel genes and biological pathways potentially mediating CKD-COPD comorbidity.
  • Findings suggest potential therapeutic strategies for managing multi-system diseases.