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Related Concept Videos

Epigenetic Regulation01:37

Epigenetic Regulation

4.0K
Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
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Epigenetic Regulation01:46

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Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
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Genome-wide Association Studies-GWAS01:11

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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.
GWAS does not require the identification of the target gene involved in...
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Drug Dosing in Renal Diseases: Estimation of Glomerular Filtration Rate Based on Serum Creatinine Concentration01:28

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Glomerular filtration rate (GFR) can be estimated from serum creatinine using the modification of diet in renal disease (MDRD) formula or the chronic kidney disease–epidemiology collaboration (CKD–EPI) equation. Both methods are widely used in clinical practice to assess kidney function and guide treatment decisions.The MDRD equation does not require weight or height measurements and is normalized to the body surface area of 1.73 m², considered the average adult surface area.
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Sample Preparation to Bioinformatics Analysis of DNA Methylation: Association Strategy for Obesity and Related Trait Studies
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Epigenome-wide association studies identify DNA methylation associated with kidney function.

Audrey Y Chu1,2, Adrienne Tin3, Pascal Schlosser4

  • 1The Population Sciences Branch, Division of Intramural Research, NHLBI, NIH, Bethesda, MD, 20892, USA.

Nature Communications
|November 4, 2017
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Summary

Epigenetic variations in DNA methylation are linked to chronic kidney disease (CKD) and estimated glomerular filtration rate (eGFR). These findings reveal novel epigenetic signatures associated with kidney function and disease progression.

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Area of Science:

  • Genetics and Epigenetics
  • Nephrology
  • Biostatistics

Background:

  • Chronic kidney disease (CKD) is a major health concern, characterized by a decline in estimated glomerular filtration rate (eGFR).
  • Previous genetic studies have suggested the involvement of regulatory mechanisms in CKD pathogenesis.
  • Epigenetic modifications, such as DNA methylation, represent a potential layer of regulation influencing kidney function.

Purpose of the Study:

  • To identify epigenetic signatures associated with kidney function and CKD using epigenome-wide association studies (EWAS).
  • To investigate the relationship between DNA methylation patterns in whole blood and eGFR/CKD.
  • To explore the concordance of identified epigenetic marks in kidney tissue and their association with renal fibrosis.

Main Methods:

  • Conducted epigenome-wide association studies of eGFR and CKD in large cohorts (ARIC and Framingham Heart Study) using whole-blood DNA methylation data.
  • Replicated significant CpG sites associated with eGFR/CKD across independent datasets.
  • Analyzed DNA methylation in kidney cortex biopsies from CKD patients to assess concordance and association with renal fibrosis.

Main Results:

  • Identified 19 CpG sites significantly associated with eGFR/CKD, with 5 replicated and showing concordance in kidney cortex.
  • Discovered that lead CpGs at PTPN6/PHB2, ANKRD11, and TNRC18 are located at active enhancers in kidney cortex.
  • Found that cg19942083 at PTPN6/PHB2 associates with lower renal PTPN6 expression, higher eGFR, and reduced renal fibrosis.
  • Observed enrichment of eGFR-associated CpG regions for transcription factor binding sites, including EBF1, EP300, and CEBPB.

Conclusions:

  • Epigenetic variation, specifically DNA methylation patterns in whole blood, is significantly associated with kidney function and CKD.
  • Identified specific epigenetic marks and regulatory elements in the kidney that correlate with kidney function and disease severity.
  • These findings highlight the role of epigenetics in kidney function and provide potential targets for understanding and managing CKD.