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Acute Kidney Injury I: Introduction01:22

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Introduction:Acute Kidney Injury (AKI) describes a swift decrease in kidney function occurring over hours to days, characterized by the kidneys' failure to remove waste products from the bloodstream. This leads to dangerous complications like metabolic acidosis, fluid overload, and electrolyte imbalances, such as hyperkalemia, which can cause life-threatening arrhythmias. AKI is common in both hospital and outpatient settings, often triggered by dehydration, sepsis, or exposure to nephrotoxic...
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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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Renal function tests are crucial for assessing kidney health, monitoring disease progression, and evaluating the kidneys' efficiency in waste elimination, fluid balance, and electrolyte regulation. These tests offer critical insights into kidney function, even though routine measurements may appear normal until there is a significant decline in the glomerular filtration rate or GFR. Typically, signs of kidney impairment only become evident when the GFR falls to about 50% of its normal level.
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In patients with renal impairment, drugs undergo significant changes in their pharmacokinetics, which require dosage adjustments to ensure safe and effective therapy.
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Association of IGF1R polymorphisms with kidney function-related traits.

Sangjung Park1, Hyun-Seok Jin2

  • 1Department of Biomedical Laboratory Science, College of Life and Health Sciences, Hoseo University, 20 Hoseo-Ro 79 Beon-Gil, Asan-Si, Chungcheongnam-Do, 31499, Republic of Korea.

Genes & Genomics
|July 21, 2023
PubMed
Summary

Genetic variations in the insulin-like growth factor 1 receptor (IGF1R) gene are associated with kidney function in Koreans. This study confirms previous findings and enhances understanding of genetic influences on kidney health.

Keywords:
Blood urea nitrogenCreatinineGlomerular filtration rateIGF1RSingle nucleotide polymorphisms (SNPs)

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Area of Science:

  • Genetics
  • Nephrology
  • Human Physiology

Background:

  • Kidney function is crucial for maintaining bodily homeostasis.
  • A genome-wide association study in Japanese individuals identified the IGF1R gene as associated with kidney function traits.
  • This prior research satisfied Bonferroni significance levels for all three kidney functions studied.

Purpose of the Study:

  • To investigate the association between IGF1R gene variants and kidney function in the Korean population.
  • To determine if the findings from Japanese populations are replicable in Koreans.

Main Methods:

  • Replication of three specific SNPs (rs28657002, rs10794486, rs4966025) within the IGF1R gene.
  • Linear regression analysis of 46 SNPs in the IGF1R gene against three kidney function traits: blood urea nitrogen (BUN), creatinine, and estimated glomerular filtration rate (eGFR).
  • Analysis conducted on a Korean cohort.

Main Results:

  • Significant correlation found between IGF1R gene variants and kidney function traits in Koreans.
  • Replication of three SNPs (rs28657002 for BUN, rs10794486 for creatinine, rs4966025 for eGFR) with high statistical significance.
  • Five SNPs (rs28657002, rs10794486, rs4966025, rs12439557, rs11247372) demonstrated common significance across all three kidney function traits.
  • Two SNPs (rs11857366, rs28657002) indicated a potential influence on IGF1R gene expression.

Conclusions:

  • Genetic polymorphisms in the IGF1R gene are confirmed to be associated with kidney function in the Korean population.
  • These findings support and extend previous research on the genetic underpinnings of kidney function.
  • The study contributes to a better understanding of how individual genetic variations impact kidney function-related traits.