title: Association of APPL1 Gene Polymorphism with Non-Alcoholic Fatty Liver Disease Susceptibility in a Chinese Han Population.
abstract: BACKGROUND
  The adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 (APPL1) has been suggested to play an important role in the pathogenesis of non-alcoholic fatty liver disease (NAFLD). The aim of this article is to explore the relationship between APPL1 rs4640525 polymorphism and the susceptibility of NAFLD in a Chinese Han population.
  
  
  METHODS
  In this study, rs4640525, a significant single nucleotide polymorphism, in the APPL1 gene was detected by the polymerase chain reaction-restriction fragment length polymorphism method, followed by extracting genomic DNA from peripheral blood leukocytes from patients with NAFLD (n = 280) and matched controls (n = 281).
  
  
  RESULTS
  The frequency of both the GG genotype and the G carrier (CG+GG) genotype were higher in NAFLD subjects compared with control subjects (all p < 0.05). The G allele frequency was 0.3036 in the NAFLD group and 0.2206 in the control group, showing a significant difference (p < 0.05). What is more, multivariate logistic regression analysis suggested that the GG genotype, G carrier genotype, body mass index, waist circumference, white blood cells, total cholesterol, alanine aminotransferase, and γ-glutamyl-transferase might be associated with an increased susceptibility of NAFLD (all p < 0.05).
  
  
  CONCLUSIONS
  The article provides evidence that GG genotype and G carrier (CG+GG) genotypes of the rs4640525 polymorphism in the APPL1 gene may be suitable susceptibility biomarkers for NAFLD.
authors.forename: Baifang
authors.initials: B
authors.lastname: Wang
authors.forename: Bingyuan
authors.initials: B
authors.lastname: Wang
authors.forename: Ying
authors.initials: Y
authors.lastname: Wang
authors.forename: Bo
authors.initials: B
authors.lastname: Wen
authors.forename: Shu
authors.initials: S
authors.lastname: Liu
authors.forename: Lixuan
authors.initials: L
authors.lastname: Sang
authors.forename: Yushuai
authors.initials: Y
authors.lastname: Chen
authors.forename: Dai
authors.initials: D
authors.lastname: Zhang
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000328:Adult; D002681:China; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D065626:Non-alcoholic Fatty Liver Disease / Q000208:ethnology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: C464801:APPL1 protein, human; D048868:Adaptor Proteins, Signal Transducing