Digestive Diseases and Sciences

, Volume 59, Issue 12, pp 2967–2974 | Cite as

Role of the PNPLA3 I148M Polymorphism in Nonalcoholic Fatty Liver Disease and Fibrosis in Korea

  • Sang Soo Lee
  • Young-Sang Byoun
  • Sook-Hyang Jeong
  • Byung Hyun Woo
  • Eun Sun Jang
  • Jin-Wook Kim
  • Hyun Young Kim
Original Article



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.


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.


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.


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).


The PNPLA3 rs738409 polymorphism is common and may confer a significant risk of NAFLD and advanced liver fibrosis in the Korean population.


Nonalcoholic fatty liver disease Patatin-like phospholipase domain-containing 3 Single-nucleotide polymorphism Fibrosis Korea 



This study was supported by a research grant from an intramural fund of Seoul National University Bundang Hospital (No. 02-2012-046).

Conflict of interest

Nothing to declare for all authors.


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Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  • Sang Soo Lee
    • 1
  • Young-Sang Byoun
    • 1
  • Sook-Hyang Jeong
    • 1
  • Byung Hyun Woo
    • 1
  • Eun Sun Jang
    • 1
  • Jin-Wook Kim
    • 1
  • Hyun Young Kim
    • 2
  1. 1.Department of Internal MedicineSeoul National University College of Medicine, Seoul National University Bundang HospitalSeongnam-siRepublic of Korea
  2. 2.Health Promotion CenterSeoul National University College of Medicine, Seoul National University Bundang HospitalSeongnam-siRepublic of Korea

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