title: Association between the PNPLA3 I148M polymorphism and non-alcoholic fatty liver disease in the Uygur and Han ethnic groups of northwestern China.
abstract: OBJECTIVE
  Multiple common gene variants play a role in non-alcoholic fatty liver disease (NAFLD) susceptibility. Our goal was to investigate the association between variants polymorphisms and NAFLD in the Uygur and Han from Northwestern China.
  
  
  METHODS
  Eight tag single nucleotide polymorphisms (tSNPs) previously reported to be associated with NAFLD were characterized in 396 NAFLD individuals and 399 controls. The association of variants with NAFLD in the Uygur and Han was assessed using the chi-squared (χ2) test in different gene models. Unconditional logistic regression analysis was performed to obtain the odds ratios (ORs) for risk of NAFLD and their 95% confidence intervals (CI), adjusted for confounding factors. Finally, stratified analysis was used to explore the potential gene-environment interactions on the risk of NAFLD.
  
  
  RESULTS
  In a recessive model, we found a potential association between rs738409 and NAFLD in both ethnic groups: Chinese Han (OR = 1.84, 95% CI: 1.03-3.27, p = 0.036), Uygur (OR = 2.25, 95% CI: 1.23-4.09, p = 0.006). The multiple logistic regression revealed that PNPLA3 rs738409 GG genotype may increase the risk of NAFLD by adjusting some confounding factors: Han (OR = 5.22, 95% CI: 1.94-14.04, p = 0.001), Uygur (OR = 4.29, 95% CI: 1.60-11.48, p = 0.004). Stratified analysis found that rs738409 polymorphism appeared to have interaction with sex, smoking status in Uygur, and have interaction with sex, age, BMI stage, lifestyle in Han.
  
  
  CONCLUSIONS
  Our data suggest the PNPLA3 I148M polymorphism influences susceptibility to NAFLD in the Han and Uygur of Northwestern China.
authors.affiliation: Center of Infectious Diseases, First Affiliated Hospital of Xinjiang Medical University, Urumqi, China.
authors.forename: Yuexin
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: School of Nursing, Xinjiang Medical University, Urumqi, China.
authors.forename: Wen
authors.initials: W
authors.lastname: Cai
authors.affiliation: Center of Infectious Diseases, First Affiliated Hospital of Xinjiang Medical University, Urumqi, China.
authors.forename: Jiangmei
authors.initials: J
authors.lastname: Song
authors.affiliation: School of Public Health, Xinjiang Medical University, Urumqi, China.
authors.forename: Lei
authors.initials: L
authors.lastname: Miao
authors.affiliation: School of Basic Medical, Xinjiang Medical University, Urumqi, China.
authors.forename: Bei
authors.initials: B
authors.lastname: Zhang
authors.affiliation: Center of Infectious Diseases, First Affiliated Hospital of Xinjiang Medical University, Urumqi, China.
authors.forename: Qin
authors.initials: Q
authors.lastname: Xu
authors.affiliation: Center of Infectious Diseases, First Affiliated Hospital of Xinjiang Medical University, Urumqi, China.
authors.forename: Lijuan
authors.initials: L
authors.lastname: Zhang
authors.affiliation: First Affiliated Hospital of Xinjiang Medical University, Urumqi, China.
authors.forename: Hua
authors.initials: H
authors.lastname: Yao
mesh_terms: D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D002681:China; D005260:Female; D059647:Gene-Environment Interaction; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008049:Lipase / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D065626:Non-alcoholic Fatty Liver Disease / Q000000981:diagnostic imaging / Q000235:genetics*; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D014463:Ultrasonography; D000217:Acyltransferases; D054512:Phospholipases A2, Calcium-Independent
chemical_list: D008049:Lipase; D008565:Membrane Proteins; C533682:PNPLA3 protein, human; D000217:Acyltransferases; D054512:Phospholipases A2, Calcium-Independent