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Polymorphisms in PI3K/AKT genes and gene‑smoking interaction are associated with susceptibility to tuberculosis

Chunli Wu1, Huixia Liu1, Ying Lin1

  • 1Hunan Provincial Key Laboratory of Clinical Epidemiology, Xiangya School of Public Health, Central South University, Changsha, Hunan, China.

Annals of Human Biology
|December 20, 2023
PubMed
Abstract

Insights

Genetic variations in PI3K/AKT pathway genes, specifically PI3KR1 and AKT1, are linked to tuberculosis (TB) susceptibility. Smoking interacts with these genetic factors, increasing TB risk.

Area of Science:

  • Genetics
  • Immunology
  • Molecular Biology

Background:

  • The phosphatidylinositol 3-kinase (PI3K) and protein kinase B (AKT) signaling pathway plays a crucial role in macrophage-mediated clearance of Mycobacterium tuberculosis (MTB).
  • Genetic variations within this pathway may influence an individual's susceptibility to developing tuberculosis (TB).

Purpose of the Study:

  • To investigate the association between polymorphisms in PI3K/AKT pathway genes and the risk of developing TB.
  • To examine the potential gene-smoking interaction influencing TB susceptibility.

Main Methods:

  • A case-control study involving 503 TB patients and 494 healthy controls.
  • Genotyping of specific polymorphisms in PI3KR1 (rs3730089) and AKT1 (rs1130233) genes.
  • Logistic regression and marginal structure linear dominance models were employed to analyze genetic associations and gene-smoking interactions.

Main Results:

  • Specific genotypes at rs3730089 in PI3KR1 (GA, AA) and rs1130233 in AKT1 (AG, GG) were significantly associated with an increased risk of TB.
  • A positive interaction (RERI = 0.9608, p < 0.05) was observed between the rs3730089 polymorphism and smoking, indicating a heightened susceptibility to TB in individuals with this genotype who smoke.

Conclusions:

  • Polymorphisms in PI3KR1 (rs3730089) and AKT1 (rs1130233) are significant genetic risk factors for TB susceptibility.
  • A notable gene-smoking interaction exists, where smoking exacerbates the risk of TB in individuals carrying the rs3730089 variant.
Keywords:
AKT1PI3KR1Single nucleotide polymorphism (SNP)SmokingTuberculosis

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