title: APOC3 rs2070666 Is Associated with the Hepatic Steatosis Independently of PNPLA3 rs738409 in Chinese Han Patients with Nonalcoholic Fatty Liver Diseases.
abstract: The association between nonalcoholic fatty liver disease (NAFLD) and apolipoprotein C3 gene (APOC3) promoter region single-nucleotide polymorphisms (SNPs) rs2854117 and rs2854116 is controversial. The aim of this study was to investigate the relationship between other polymorphisms of APOC3 and NAFLD in Chinese.
  
  
  
  Fifty-nine liver biopsy-proven NAFLD patients and 72 healthy control subjects were recruited to a cohort representing Chinese Han population. The polymorphisms in the exons and flanking regions of APOC3 and patatin-like phospholipase domain-containing protein 3 (PNPLA3) rs738409 polymorphisms were genotyped.
  
  
  
  Among the five SNPs (rs4225, rs4520, rs5128, rs2070666, and rs2070667) in APOC3, only rs2070666 (c.179 + 62 T/A) was significantly different in genotype and allele frequency (both p < 0.01) between groups of NAFLD and control. After adjusting for sex, age, serum triglycerides, total cholesterol, body mass index, and the PNPLA3 rs738409 polymorphism, the APOC3 rs2070666 A allele was an independent risk factor for NAFLD with an odds ratio (OR) of 3.683 and 95 % confidence interval (CI) of 1.037-13.084. The APOC3 rs2070666 A allele was linked to the fourth quartile of the controlled attenuation parameter values (OR 2.769, 95 % CI 1.002-7.651) in 131 subjects, and also linked to the significant histological steatosis (OR 4.986, 95 % CI 1.020-24.371), but neither to liver stiffness measurement values nor to hepatic histological activity and fibrosis in NAFLD patients.
  
  
  
  The APOC3 rs2070666 A allele is a risk factor for NAFLD independent of obesity, dyslipidemia, and PNPLA3 rs738409, and it might contribute to increased liver fat content in Chinese Han population.
authors.affiliation: Department of Gastroenterology and Center for Fatty Liver, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200092, China.
authors.forename: Rui-Nan
authors.initials: RN
authors.lastname: Zhang
authors.affiliation: Department of Hepatology, Zhengxing Hospital, Zhangzhou, 363000, China.
authors.forename: Rui-Dan
authors.initials: RD
authors.lastname: Zheng
authors.affiliation: Department of Infective Disease, Tianjin Infectious Disease Hospital, Tianjin, 300192, China.
authors.forename: Yu-Qiang
authors.initials: YQ
authors.lastname: Mi
authors.affiliation: Department of Gastroenterology and Center for Fatty Liver, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200092, China.
authors.forename: Da
authors.initials: D
authors.lastname: Zhou
authors.affiliation: Department of Gastroenterology and Center for Fatty Liver, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200092, China.
authors.forename: Feng
authors.initials: F
authors.lastname: Shen
authors.affiliation: Department of Gastroenterology and Center for Fatty Liver, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200092, China.
authors.forename: Guang-Yu
authors.initials: GY
authors.lastname: Chen
authors.affiliation: Department of Gastroenterology and Center for Fatty Liver, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200092, China.
authors.forename: Chan-Yan
authors.initials: CY
authors.lastname: Zhu
authors.affiliation: Department of Gastroenterology and Center for Fatty Liver, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200092, China. pan_qin@yeah.net.
authors.forename: Qin
authors.initials: Q
authors.lastname: Pan
authors.affiliation: Department of Gastroenterology and Center for Fatty Liver, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200092, China. fanjiangao@gmail.com.
authors.forename: Jian-Gao
authors.initials: JG
authors.lastname: Fan
mesh_terms: D000328:Adult; D000410:Alanine Transaminase / Q000097:blood; D053305:Apolipoprotein C-III / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D015992:Body Mass Index; D016022:Case-Control Studies; D002784:Cholesterol / Q000097:blood; D050171:Dyslipidemias / Q000097:blood / Q000453:epidemiology; D054459:Elasticity Imaging Techniques; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008049:Lipase / Q000235:genetics; D008099:Liver / Q000000981:diagnostic imaging / Q000473:pathology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D065626:Non-alcoholic Fatty Liver Disease / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D009765:Obesity / Q000097:blood / Q000453:epidemiology; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D014280:Triglycerides / Q000097:blood; D005723:gamma-Glutamyltransferase / Q000097:blood; D000217:Acyltransferases; D054512:Phospholipases A2, Calcium-Independent
chemical_list: D000410:Alanine Transaminase; D053305:Apolipoprotein C-III; D002784:Cholesterol; D008049:Lipase; D008565:Membrane Proteins; D014280:Triglycerides; D005723:gamma-Glutamyltransferase; C533682:PNPLA3 protein, human; D000217:Acyltransferases; D054512:Phospholipases A2, Calcium-Independent
keywords: Apolipoprotein C3; FibroScan; Liver biopsy; Nonalcoholic fatty liver disease; Single-nucleotide polymorphisms