Association of MMP-9 gene polymorphisms with nephrolithiasis patients

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Atheer Awad Mehde1,2, Wesen Adel Mehdi2, Faridah Yusof1

  • 1Department of Biotechnology Engineering, Faculty of Engineering, International Islamic University Malaysia, Kuala Lumpur, Malaysia.

Journal of Clinical Laboratory Analysis
|February 17, 2017
PubMed
Abstract

Insights

The MMP-9 C1562T gene variant, specifically the TT genotype, is linked to an increased risk of kidney stones (nephrolithiasis). This genotype also elevates oxidative stress markers in patients, potentially increasing cardiovascular disease risk.

Area of Science:

  • Genetics
  • Nephrology
  • Biochemistry

Background:

  • Nephrolithiasis is a significant risk factor for chronic kidney disease (CKD).
  • Matrix metalloproteinases (MMPs), particularly MMP-9, play a role in extracellular matrix degradation and are implicated in atherosclerosis pathogenesis.
  • The association between MMP-9 gene polymorphisms and nephrolithiasis requires further investigation.

Purpose of the Study:

  • To investigate the association of MMP-9 gene polymorphisms (R279Q and C1562T) with nephrolithiasis.
  • To evaluate the relationship between these polymorphisms and serum levels of MMP-9, oxidative stress markers, and uric acid in patients with nephrolithiasis.

Main Methods:

  • Genotyping of MMP-9 R279Q and C1562T polymorphisms using PCR-based restriction digestion.
  • Measurement of serum MMP-9, Malondialdehyde (MDA), and uric acid levels in patients and control groups.

Main Results:

  • The T allele frequency of the MMP-9 C1562T polymorphism was significantly higher in nephrolithiasis patients compared to controls.
  • The TT genotype was more prevalent in the nephrolithiasis group.
  • Patients with CT and TT genotypes exhibited elevated serum MMP-9, Total Oxidant Status (TOS), Oxidative Stress Index (OSI), MDA, and uric acid compared to the CC genotype.
  • No significant association was found between the R279Q polymorphism and nephrolithiasis.

Conclusions:

  • The TT genotype of the MMP-9 C1562T polymorphism is associated with an increased risk of nephrolithiasis.
  • This TT genotype correlates with increased oxidative stress in nephrolithiasis patients.
  • The TT genotype may pose a cardiovascular disease risk in individuals with nephrolithiasis.
Keywords:
MMP-9 gene polymorphismmalondialdehydenephrolithiasistotal antioxidant status

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