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Related Concept Videos

Hormonal Regulation01:33

Hormonal Regulation

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The renin-aldosterone system is an endocrine system which guides the renal absorption of water and electrolytes, thus managing blood pressure and osmoregulation. Activation of the system begins in the kidneys with a small cluster of cells adjacent to the afferent and efferent blood vessels of the renal corpuscle. As the nephrons are filtering blood, juxtaglomerular cells monitor blood pressure. If they detect a decrease in pressure, they release the hormone renin into the bloodstream.
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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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The kidneys are two large bean-shaped organs located in the upper abdomen. They filter the blood several times a day to remove toxins and rebalance water and electrolytes of the circulatory system via the renal veins. The kidneys receive blood directly from the heart via the renal arteries. These arteries enter the kidney at the hilum, the concave surface of the bean, where they branch and divide into smaller vessels and capillaries.
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Pleiotropy01:33

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Comparing Copy Number Variations and SNPs02:26

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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Single Nucleotide Polymorphisms-SNPs01:05

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Related Experiment Video

Updated: May 31, 2025

5/6 Nephrectomy Using Sharp Bipolectomy Via Midline Laparotomy in Rats
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Genetic Variants Related to Increased CKD Progression-A Systematic Review.

Filipe S Mira1,2, Bárbara Oliveiros2,3,4,5,6, Isabel Marques Carreira2,4,5,6,7

  • 1Department of Nephrology, Unidade Local de Saúde de Coimbra, 3004-561 Coimbra, Portugal.

Biology
|January 25, 2025
PubMed
Summary

Genetic variants influence chronic kidney disease (CKD) progression. This review identified several gene alterations linked to metabolic, oxidative, immune, and epigenetic pathways, impacting renal damage. Further research is needed to confirm these findings.

Keywords:
chronic kidney diseaseend-stage renal diseaseestimated glomerular filtration rate (eGFR)geneticsprogressionsingle nucleotide polymorphism

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Area of Science:

  • Nephrology
  • Genetics
  • Genomics

Background:

  • Chronic kidney disease (CKD) incidence and prevalence are rising globally.
  • CKD is linked to significant morbidity, mortality, and healthcare expenses.
  • Genetic factors are implicated in CKD development and progression.

Purpose of the Study:

  • To systematically review and identify associations between genetic allelic variants and CKD progression.
  • To synthesize findings from diverse study designs and populations, excluding hereditary causes.

Main Methods:

  • Systematic literature review adhering to PRISMA guidelines.
  • Searched PubMed, Embase, and Cochrane Central databases.
  • Included cohort, case-control, and genome-wide association studies (GWASs).

Main Results:

  • 38 reports were analyzed, involving diverse ethnicities and comorbid conditions.
  • Identified genetic variants in genes related to metabolism, oxidative stress, immune regulation, the renin-angiotensin-aldosterone pathway, and epigenetics.
  • These variants can alter protein function, leading to renal damage and influencing CKD progression.

Conclusions:

  • Gene polymorphisms play a role in CKD progression.
  • Identified associations are often population-specific and influenced by comorbidities and environmental factors.
  • Larger-scale studies are required to validate these genetic associations.