Association between STAT3 gene polymorphisms and Crohn's disease susceptibility: a case-control study in a Chinese Han population

Diagn Pathol. 2014 May 29:9:104. doi: 10.1186/1746-1596-9-104.

Abstract

Background: Crohn's disease (CD) is an immune-related disease with genetic predisposition. This study aimed to investigate the association of three polymorphisms in the signal transducer and activator of transcription 3 (STAT3) gene with CD risk in a Chinese population.

Methods: We conducted a hospital-based case-control study involving 232 CD patients and 272 controls. Genotyping was performed using polymerase chain reaction with sequence-specific primer method. Statistical analyses were conducted using logistic regression and genotype risk scoring.

Results: Significant differences were found between patients and controls in allele/genotype distributions of rs744166 (Pallele=0.0008; Pgenotype=0.003) and allele distributions of rs4796793 (P = 0.03). The risk for CD associated with the rs744166-A mutant allele decreased by 37% [95% confidence interval (CI): 0.48-0.83] under the additive model, 39% (95% CI: 0.43-0.81) under the dominant model and 57% (95% CI: 0.24-0.77) under the recessive model. Carriers of the rs4796793-G mutant allele exhibited 25% (95% CI: 0.58-0.98; P=0.03) and 47% (95% CI: 0.30-0.95) decreased risks of developing CD under the additive and recessive models, respectively.

Conclusions: STAT3 rs744166 and rs4796793 polymorphisms may be associated with CD occurrence and used as a predictive factor of CD in Chinese Han populations.

Virtual slides: The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/2169674321122294.

MeSH terms

  • Adult
  • Asian People / genetics*
  • Case-Control Studies
  • Chi-Square Distribution
  • China / epidemiology
  • Crohn Disease / ethnology
  • Crohn Disease / genetics*
  • Female
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Humans
  • Logistic Models
  • Male
  • Middle Aged
  • Odds Ratio
  • Phenotype
  • Polymorphism, Genetic*
  • Risk Assessment
  • Risk Factors
  • STAT3 Transcription Factor / genetics*
  • Young Adult

Substances

  • STAT3 Transcription Factor
  • STAT3 protein, human