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Association of rs12722 COL5A1 with pulmonary tuberculosis: a preliminary case-control study in a Kazakhstani

Sanzhar Zhetkenev1, Ayauly Khassan1, Armanay Khamzina1

  • 1School of Medicine, Nazarbayev University, Nur-Sultan city, Kazakhstan.

Molecular Biology Reports
|January 7, 2021
PubMed

Insights

This study found that a specific gene variant in COL5A1 is associated with increased susceptibility to tuberculosis (TB). Targeting metalloproteinases (MMPs) may offer new therapeutic strategies for TB by aiding collagen repair.

Area of Science:

  • Genetics
  • Immunology
  • Pathology

Background:

  • Lung cavitation, a hallmark of tuberculosis (TB), involves lung parenchyma degradation mediated by matrix metalloproteinases (MMPs).
  • Collagen fibers are crucial components of lung parenchyma, and their degradation by MMPs contributes to TB pathogenesis.

Purpose of the Study:

  • To investigate the association between specific single nucleotide polymorphisms (SNPs) in COL1A1 and COL5A1 genes and pulmonary TB susceptibility in Kazakhstan.
  • To identify demographic and genetic factors influencing TB risk.

Main Methods:

  • A population-based case-control study involving 50 TB patients and 112 controls.
  • Genotyping of rs1800012 in COL1A1 and rs12722 in COL5A1 using logistic regression analysis.
  • Analysis of demographic variables including age, social status, and HIV status.

Main Results:

  • A statistically significant association was found between the heterozygous rs12722 SNP in the COL5A1 gene and increased TB susceptibility (AOR=2.47, p=0.018).
  • Age, social status, and HIV status were also significantly associated with TB.
  • No significant association was observed for the rs1800012 SNP in COL1A1.

Conclusions:

  • The COL5A1 gene polymorphism, specifically rs12722, may play a role in TB susceptibility.
  • Findings suggest that targeting MMPs could be a potential therapeutic strategy for TB by promoting collagen remodeling and repair.
  • Further research into collagen gene variations and MMP inhibition could inform novel anti-TB treatment regimens.
Keywords:
COL5A1KazakhstanMycobacterium tuberculosisPolymorphismSNPsTB

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