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Determination of alpha-2-MRAP gene polymorphisms in nephrolithiasis patients

Atheer Awad Mehde1, Wesen Adel Mehdi2, Faridah Yusof3

  • 1Biomedical, Magnetic and Semi Conductive Materials Application and Research Centre, Sakarya University, Sakarya, Turkey; Department of Biotechnology Engineering, Faculty of Engineering, International Islamic University Malaysia, Kuala Lumpur 50728, Malaysia.

International Journal of Biological Macromolecules
|August 2, 2017
PubMed
Abstract

Insights

The Alpha-2-macroglobulin receptor-associated protein gene (Alpha-2-MRAP) intron 5 polymorphism, specifically the II genotype, is linked to an increased risk of nephrolithiasis. This genotype is also associated with heightened oxidative stress in patients with kidney stones.

Area of Science:

  • Genetics and Molecular Biology
  • Nephrology
  • Biochemistry

Background:

  • The intron 5 insertion/deletion polymorphism in the Alpha-2-macroglobulin receptor-associated protein gene (Alpha-2-MRAP) is linked to various diseases.
  • Understanding this polymorphism's role in nephrolithiasis is crucial for disease management.

Purpose of the Study:

  • To investigate the association between the Alpha-2-MRAP intron 5 insertion/deletion polymorphism and nephrolithiasis.
  • To evaluate serum levels of Alpha-2-MRAP and oxidative stress markers in relation to this polymorphism in kidney stone patients.

Main Methods:

  • Genomic DNA from nephrolithiasis patients and controls was analyzed for Alpha-2-MRAP intron 5 insertion/deletion polymorphism using PCR.
  • Serum levels of Alpha-2-MRAP, myeloperoxidase, Malondialdehyde (MDA), Advanced oxidation protein products (AOPP), and uric acid were quantified.

Main Results:

  • The II genotype of Alpha-2-MRAP was significantly associated with nephrolithiasis.
  • Patients with the II genotype exhibited decreased serum Alpha-2-MRAP and myeloperoxidase levels.
  • Elevated levels of oxidative stress markers (MDA, AOPP, uric acid) were observed in II and ID genotypes compared to DD in nephrolithiasis patients.

Conclusions:

  • The II genotype of the Alpha-2-MRAP intron 5 polymorphism increases the risk of kidney stones.
  • The I allele is associated with increased oxidative stress in nephrolithiasis, potentially posing a cardiovascular risk in patients with the II genotype.
Keywords:
Alpha-2-MRAP gene polymorphismNephrolithiasisTotal antioxidant status

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