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


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2014-07-29

AUTHORS

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

ABSTRACT

BackgroundThe 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.AimsThe 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.MethodsA 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.ResultsThe 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).ConclusionThe PNPLA3 rs738409 polymorphism is common and may confer a significant risk of NAFLD and advanced liver fibrosis in the Korean population. More... »

PAGES

2967-2974

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s10620-014-3279-z

DOI

http://dx.doi.org/10.1007/s10620-014-3279-z

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1013451005

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/25069572


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58 aim
59 allele distribution
60 alleles
61 allelic discrimination assay
62 analysis
63 assays
64 association
65 control group
66 criteria
67 development
68 development of NAFLD
69 discrimination assay
70 disease
71 distribution
72 factors
73 fatty liver disease
74 fibrosis
75 fibrosis score
76 fibrosis severity
77 frequency
78 genotype frequencies
79 genotypes
80 genotyping
81 group
82 healthy control group
83 high frequency
84 independent factors
85 liver disease
86 liver fibrosis
87 liver fibrosis severity
88 mild
89 moderate fibrosis
90 multivariate analysis
91 nonalcoholic fatty liver disease
92 patatin-like phospholipase
93 patients
94 phospholipase
95 polymorphism
96 population
97 progression
98 risk
99 risk alleles
100 role
101 rs738409
102 rs738409 genotype
103 rs738409 polymorphism
104 scores
105 severity
106 significant risk
107 single nucleotide polymorphisms
108 study
109 total
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