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Extracellular matrix remodeling genes polymorphisms and risk of chronic bronchitis and recurrent pneumonia in

Gulnaz Faritovna Korytina1, Leysan Zinurovna Akhmadishina, Elena Vitalievna Viktorova

  • 1Department of Genomics, Institute of Biochemistry and Genetics, Ufa Scientific Center, Ufa, Russian Federation. Guly_kory@mail.ru

Journal of Human Genetics
|April 12, 2013
PubMed

Insights

Gene variations in matrix metalloproteinases (MMP) and tissue inhibitors of metalloproteinases (TIMP) are linked to severe respiratory diseases in Tatar children. Specific MMP9, MMP3, and TIMP3 gene polymorphisms and MMP3/MMP12 haplotypes increase susceptibility to chronic bronchitis and recurrent pneumonia.

Area of Science:

  • Genetics
  • Pediatrics
  • Pulmonology

Background:

  • Severe chronic respiratory diseases pose a significant health burden in children.
  • Genetic predispositions, including gene polymorphisms, are increasingly recognized as factors influencing disease susceptibility.
  • Matrix metalloproteinases (MMPs) and their inhibitors (TIMPs) are crucial in tissue remodeling and inflammation, making them candidates for respiratory disease association studies.

Purpose of the Study:

  • To investigate the association between gene polymorphisms in MMPs, disintegrin and metalloproteinase 33 (ADAM33), and TIMPs with severe chronic respiratory diseases in Tatar children.
  • To identify specific genetic variants and haplotypes that may confer susceptibility or protection against chronic bronchitis and recurrent pneumonia.

Main Methods:

  • A case-control study was conducted with 592 Tatar individuals from Ufa, Russia.
  • The study included 119 children with chronic bronchitis, 138 with recurrent pneumonia, and 335 healthy controls.
  • Genotyping was performed for specific polymorphisms in MMP9, MMP12, MMP3, and TIMP3 genes, and haplotype analysis was conducted for MMP3 and MMP12.

Main Results:

  • The heterozygous genotype for MMP9 (2660A>G) was associated with a protective effect in healthy children compared to patients with chronic bronchitis and recurrent pneumonia.
  • MMP12 (-82A>G) locus showed an association with chronic bronchitis.
  • The MMP3 (6A6A genotype) and a combined MMP3/MMP12 haplotype were significantly associated with recurrent pneumonia and chronic bronchitis, respectively.
  • TIMP3 (-1296T>C) polymorphism was linked to recurrent pneumonia.

Conclusions:

  • Specific gene polymorphisms in MMP9, MMP3, and TIMP3, as well as MMP3 and MMP12 haplotypes, play a role in the susceptibility to severe airway and lung injury in children.
  • These genetic factors may contribute to the development of chronic bronchitis and recurrent pneumonia in the studied pediatric population.
  • Further research is warranted to elucidate the precise mechanisms underlying these genetic associations.

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