title: Role of the PNPLA3 I148M polymorphism in nonalcoholic fatty liver disease and fibrosis in Korea.
abstract: BACKGROUND
  The role of the patatin-like phospholipase domain-containing 3 (PNPLA3) single-nucleotide polymorphism (SNP), rs738409, in the development and progression of nonalcoholic fatty liver disease (NAFLD) has not been studied in the Korean population.
  
  
  OBJECTIVE
  The aim of the study was to investigate the genotype frequency and allele distribution of PNPLA3 rs738409 and the association between the SNP and development of NAFLD and liver fibrosis.
  
  
  METHODS
  A total of 339 Korean adults (155 NAFLD patients and 184 healthy controls) were enrolled. PNPLA3 SNP genotyping was carried out using a TaqMan allelic discrimination assay. Liver fibrosis severity was evaluated by NAFLD fibrosis score (NFS) and BARD score.
  
  
  RESULTS
  The frequencies of the PNPLA3 rs738409 genotypes, CC, CG, and GG in the healthy control group were 29.9, 50.0, and 20.1%, respectively, and those in NAFLD patients were 20.0, 48.4, and 31.6%, respectively, showing a higher frequency of the risk allele (G allele) (p = 0.006). Among the NAFLD patients, the CG+GG genotype frequency was significantly higher in patients with advanced fibrosis, defined as NFS ≥ -1.455 or BARD score ≥2, than in patients with mild-to-moderate fibrosis (p = 0.012 and p = 0.046, respectively). In multivariate analysis, the CG+GG genotype was an independent factor for NAFLD development (odds ratio 2.568, 95% CI 1.109-5.945, p = 0.028) and for advanced liver fibrosis according to the criteria of NFS ≥ -1.455 (odds ratio 18.573, 95% CI 2.035-169.526, p = 0.010) or a BARD score ≥2 (odds ratio 4.040, 95% CI 1.084-15.048, p = 0.037).
  
  
  CONCLUSIONS
  The PNPLA3 rs738409 polymorphism is common and may confer a significant risk of NAFLD and advanced liver fibrosis in the Korean population.
authors: Department of Internal Medicine, Seoul National University College of Medicine, Seoul National University Bundang Hospital, 82 Gumi-ro, 173 Beon-gil, Bundang-gu, Seongnam-si, 463 707, Gyeonggi-do, Republic of Korea, 3939lee@naver.com.
authors: Sang Soo
authors: SS
authors: Lee
authors: Young-Sang
authors: YS
authors: Byoun
authors: Sook-Hyang
authors: SH
authors: Jeong
authors: Byung Hyun
authors: BH
authors: Woo
authors: Eun Sun
authors: ES
authors: Jang
authors: Jin-Wook
authors: JW
authors: Kim
authors: Hyun Young
authors: HY
authors: Kim
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008049:Lipase / Q000235:genetics / Q000378:metabolism*; D008103:Liver Cirrhosis / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics / Q000378:metabolism*; D008875:Middle Aged; D065626:Non-alcoholic Fatty Liver Disease / Q000453:epidemiology / Q000235:genetics*; D016017:Odds Ratio; D011110:Polymorphism, Genetic; D056910:Republic of Korea / Q000453:epidemiology; 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