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Association of Matrix Metalloprotease 1 and 9 Promoter Polymorphisms with Obstructive Sleep Apnea: A Case-Control

K Mevlut1, A S Ayla2, S Nurhan3

  • 1Department of Molecular Oncology, Faculty of Science and Literature, Istinye University, Istanbul, Türkiye.

Nigerian Journal of Clinical Practice
|December 29, 2025
PubMed
Abstract

Insights

Genetic factors influence obstructive sleep apnea (OSA). Specific matrix metalloproteinase-1 (MMP-1) gene variations (2G/G and 2G/2G genotypes) are identified as significant risk factors for OSA development.

Area of Science:

  • Genetics
  • Sleep Medicine
  • Molecular Biology

Background:

  • Obstructive sleep apnea (OSA) is a prevalent sleep disorder with a known genetic component.
  • Matrix metalloproteinases (MMPs) are enzymes involved in extracellular matrix degradation.
  • The specific roles of MMP-1 and MMP-9 promoter polymorphisms in OSA pathogenesis remain unclear.

Purpose of the Study:

  • To investigate the association between specific polymorphisms in the MMP1 gene (rs1799750, -1607 1G/2G) and MMP9 gene (rs3918242, -1562 C/T) with the risk of developing OSA.
  • To clarify the genetic contribution of these MMP polymorphisms to OSA susceptibility.

Main Methods:

  • A case-control study involving 85 OSA patients and 97 healthy controls.
  • Genotyping for MMP-1 (-1607 1G/2G) and MMP-9 (-1562 C/T) polymorphisms was conducted using Polymerase Chain Reaction Restriction Fragment Length Polymorphism (PCR-RFLP).
  • Statistical analysis was performed to compare genotype frequencies and assess associations with OSA, with P < 0.05 considered significant.

Main Results:

  • No significant differences in age or gender were observed between OSA patients and controls.
  • Obstructive sleep apnea patients exhibited a significantly higher body mass index (BMI) compared to the control group.
  • The MMP-1 -1607 (2G/G and 2G/2G) genotypes showed a statistically significant association with an increased risk of OSA (P = 0.013).
  • No significant association was found between the MMP-9 -1562 C/T polymorphism and OSA at either the genotypic or combined genotype level (P > 0.05).

Conclusions:

  • The MMP-1 -1607 2G/G and 2G/2G genotypes are identified as significant genetic risk factors contributing to the development of obstructive sleep apnea.
  • The MMP-9 -1562 C/T polymorphism does not appear to be associated with OSA risk in the studied population.
Keywords:
MMP-1MMP-9Matrix metalloproteinaseRFLPobstructive sleep apneapromoter

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