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Related Concept Videos

Principles of Pharmacogenetics: Types of Genetic Variants01:27

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...
Drug Dosing in Renal Diseases: Estimation of Glomerular Filtration Rate Based on Serum Creatinine Concentration01:28

Drug Dosing in Renal Diseases: Estimation of Glomerular Filtration Rate Based on Serum Creatinine Concentration

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. This equation is...
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Renal dysfunction significantly impairs the renal clearance of drugs, leading to potential complications in drug therapy. Renal failure, which can be caused by various factors, poses a significant challenge in the elimination of drugs from the body.
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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.
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Application of Laser Microdissection to Uncover Regional Transcriptomics in Human Kidney Tissue
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Published on: June 9, 2020

Multiple loci associated with renal function in African Americans.

Daniel Shriner1, Alan Herbert, Ayo P Doumatey

  • 1Center for Research on Genomics and Global Health, National Human Genome Research Institute, Bethesda, Maryland, USA. shrinerda@mail.nih.gov

Plos One
|October 3, 2012
PubMed
Summary

Genetic factors significantly influence kidney function in African Americans. This study identified 11 genetic loci associated with estimated glomerular filtration rate (eGFR), explaining a substantial portion of its variation in admixed populations.

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Area of Science:

  • Genetics
  • Nephrology
  • Population Health

Background:

  • Chronic kidney disease (CKD) incidence is disproportionately higher in African Americans compared to European Americans.
  • Glomerular filtration rate (GFR) is a key metric for CKD staging.
  • Previous research identified 23 genetic loci linked to estimated GFR (eGFR) in European ancestry populations.

Purpose of the Study:

  • To investigate the association of 23 previously identified genetic loci with eGFR in a diverse population of admixed African Americans.
  • To identify novel genetic variants influencing renal function in this demographic.
  • To assess the contribution of these loci to phenotypic variance in eGFR.

Main Methods:

  • A follow-up study was conducted on 1,018 unrelated admixed African Americans.
  • Local and global ancestry were estimated to control for admixture confounding.
  • Regression analyses were performed, stratified by local ancestry, and combined using a fixed-effects model.

Main Results:

  • Eleven of the 24 evaluated genetic loci showed a significant association with eGFR in the admixed African American sample.
  • The identified loci collectively explained 14.2% of the phenotypic variance in eGFR, a substantial increase compared to 1.4% in European ancestry populations.
  • Significant differences in allele frequencies were observed at 10 of the 11 associated loci between ancestry groups.

Conclusions:

  • This study highlights the importance of specific genetic loci in determining renal function variation among admixed African Americans.
  • The findings offer valuable insights into the genetic underpinnings of kidney function in a population with a high burden of CKD.
  • Further research into these loci could inform targeted interventions for CKD prevention and management.