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Association of STAT3 gene polymorphisms with systemic lupus erythematosus in a Chinese Han population

Yang-Yang Tang1, Lu Fu2, Xiao-Yan Liu1

  • 1Department of Evidence-Based Medicine, Southwest Medical University, Luzhou, China.

Lupus
|September 8, 2023
PubMed

Insights

Genetic variations in the STAT3 gene are linked to systemic lupus erythematosus (SLE) susceptibility. Specific STAT3 polymorphisms show associations with SLE risk and clinical manifestations in the Chinese Han population.

Area of Science:

  • Immunogenetics
  • Rheumatology
  • Molecular Biology

Background:

  • Signal transducer and activator of transcription 3 (STAT3) plays a crucial role in immune regulation and is implicated in systemic lupus erythematosus (SLE).
  • While the role of STAT3 in SLE is recognized, the specific contribution of STAT3 gene polymorphisms to SLE susceptibility requires further investigation.

Purpose of the Study:

  • To investigate the association between specific STAT3 gene polymorphisms and the risk of developing SLE.
  • To explore potential correlations between these STAT3 polymorphisms and clinical features in SLE patients.

Main Methods:

  • A case-control study involving 300 SLE patients and 380 healthy controls from the Chinese Han population.
  • Genotyping of four STAT3 single nucleotide polymorphisms (rs6503695, rs744166, rs9912773, and rs12601982) using the Kompetitive Allele-Specific PCR (KASP) method.
  • Statistical analysis using SPSS 26.0 to assess genetic susceptibility and genotype-phenotype correlations.

Main Results:

  • Significant associations were found between specific genotypes/alleles of rs6503695 and rs744166 and reduced SLE risk.
  • STAT3 polymorphisms rs9912773 and rs12601982 (in recessive models) were significantly associated with SLE susceptibility.
  • Specific STAT3 alleles/genotypes correlated with clinical manifestations including optic nerve damage, rash, albuminuria, hypocomplementemia, and SLEDAI scores.

Conclusions:

  • STAT3 gene polymorphisms are significantly associated with susceptibility to systemic lupus erythematosus.
  • Certain STAT3 polymorphisms may influence the clinical phenotype and disease activity in SLE patients.
Abstract

Keywords:
STAT3Systemic lupus erythematosusclinical datapolymorphism

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