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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49 NAFLD patients
50 PNPLA3 I148M polymorphism
51 PNPLA3 rs738409
52 PNPLA3 rs738409 genotype
53 PNPLA3 rs738409 polymorphism
54 SNP genotyping
55 TaqMan allelic discrimination assay
56 adults
57 advanced fibrosis
58 advanced liver fibrosis
59 aim
60 allele distribution
61 alleles
62 allelic discrimination assay
63 analysis
64 assays
65 association
66 control group
67 criteria
68 criteria of NFS
69 development
70 development of NAFLD
71 discrimination assay
72 disease
73 distribution
74 factors
75 fatty liver disease
76 fibrosis
77 fibrosis score
78 fibrosis severity
79 frequency
80 genotype frequencies
81 genotypes
82 genotyping
83 group
84 healthy control group
85 high frequency
86 independent factors
87 liver disease
88 liver fibrosis
89 liver fibrosis severity
90 mild
91 moderate fibrosis
92 multivariate analysis
93 nonalcoholic fatty liver disease
94 patatin-like phospholipase
95 patients
96 phospholipase
97 polymorphism
98 population
99 progression
100 risk
101 risk alleles
102 role
103 rs738409
104 rs738409 genotype
105 rs738409 polymorphism
106 scores
107 severity
108 significant risk
109 single nucleotide polymorphisms
110 study
111 total
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