title: Genetic variants in STAT3 are associated with nonalcoholic fatty liver disease.
abstract: OBJECTIVE
  To investigate the role of gene variants and derived haplotypes of the STAT3 transcription factor in nonalcoholic fatty liver disease (NAFLD) and their relation with the clinical disease severity.
  
  
  METHODS
  108 patients with NAFLD and different stages of clinical disease severity, and a group of 55 healthy individuals were included in a Hospital-based study. We selected 3 tagSNPs showing a minor allele frequency >10% (rs2293152 C/G, rs6503695 C/T, and rs9891119 A/C) encompassing 68.55kb in chromosome 17, representing 24 polymorphic sites (r(2)>0.8).
  
  
  RESULTS
  In univariate analysis, there were significant differences in the allele frequency of the rs6503695 and rs9891119 between the healthy individuals and NAFLD patients (empiric P=0.021 and 0.020, respectively). The test results for the multi-marker analysis showed that haplotypes TA and CC of tagSNPs rs6503695, rs9891119 were significantly associated with NAFLD (empiric P=0.035 and 0.015, respectively). When we tested the hypothesis of a relation between the gene variants and the clinical and histological spectrum of NAFLD by multinomial analysis, a significant association was observed with rs9891119 (P=0.02).
  
  
  CONCLUSIONS
  Our study suggests a potential role of the STAT3 polymorphisms and their haplotypes in susceptibility to NAFLD and disease severity.
authors.affiliation: Department of Molecular Genetics and Biology of Complex Diseases, Institute of Medical Research A. Lanari, University of Buenos Aires-CONICET, Ciudad Autónoma de Buenos Aires, Argentina. ssookoian@lanari.fmed.uba.ar
authors.forename: Silvia
authors.initials: S
authors.lastname: Sookoian
authors.forename: Gustavo
authors.initials: G
authors.lastname: Castaño
authors.forename: Tomas Fernández
authors.initials: TF
authors.lastname: Gianotti
authors.forename: Carolina
authors.initials: C
authors.lastname: Gemma
authors.forename: María Soledad
authors.initials: MS
authors.lastname: Rosselli
authors.forename: Carlos Jose
authors.initials: CJ
authors.lastname: Pirola
mesh_terms: D000328:Adult; D003430:Cross-Sectional Studies; D005234:Fatty Liver / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D050796:STAT3 Transcription Factor / Q000235:genetics*
chemical_list: D050796:STAT3 Transcription Factor; C494086:STAT3 protein, human