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Association between CBL gene polymorphism and susceptibility of microscopic polyangiitis in a Chinese population: A

Liu Liu1, Yan Zhu2, Jingjing Lan3

  • 1The Second Affiliated Hospital of Guangxi Medical University, Department of Nephrology, Nanning Guangxi, 530007, China; The First Affiliated Hospital, Department of Nephrology, Hengyang Medical School, University of South China, Hengyang Hunan, 421001, China.

Cytokine
|April 26, 2024
PubMed
Abstract

Insights

Genetic variations in the Casitas B-lineage lymphoma (CBL) gene may influence microscopic polyangiitis (MPA) risk and treatment outcomes in Chinese populations. Specific CBL single nucleotide polymorphisms (SNPs) showed protective effects against MPA and correlated with better clinical responses.

Area of Science:

  • Genetics
  • Immunology
  • Clinical Medicine

Background:

  • Microscopic polyangiitis (MPA) is a significant autoimmune vasculitis.
  • Understanding the genetic factors contributing to MPA pathogenesis is crucial for risk stratification and targeted therapies.

Purpose of the Study:

  • To investigate the association between Casitas B-lineage lymphoma (CBL) gene polymorphisms and the risk of developing microscopic polyangiitis (MPA) in a Chinese population.
  • To explore the correlation between CBL gene variations and the clinical treatment effects in MPA patients.

Main Methods:

  • A case-control study involving 266 MPA patients and 297 healthy controls.
  • Genotyping of five CBL single nucleotide polymorphisms (SNPs) using multiplex polymerase chain reaction and high-throughput sequencing.
  • Statistical analysis including SNPstats for genetic models and generalized multifactor dimensionality reduction (GMDR) for gene-gene interactions.

Main Results:

  • The CBL rs2276083 SNP was significantly associated with a reduced risk of MPA under dominant and recessive models.
  • Stratification analyses revealed protective effects of rs2276083 and rs2509671 in younger individuals, and rs2276083 in females and the Han population.
  • Potential interactions were identified between CBL, PI3KCA, and ATG7 SNPs in MPA development. Specific CBL genotypes (rs1047417 AG and rs11217234 AG) were linked to improved treatment responses.

Conclusions:

  • Casitas B-lineage lymphoma (CBL) gene polymorphism is potentially associated with both the risk of microscopic polyangiitis (MPA) and its clinical treatment effects in the Guangxi population of China.
  • These findings suggest that CBL genetic variations could serve as biomarkers for MPA susceptibility and treatment efficacy.
Keywords:
CBL geneMicroscopic polyangiitisSingle nucleotide polymorphisms

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