Key result
Genetic polymorphisms in the PNPLA3 (e.g., rs738409, OR 1.537) and SAMM50 genes were significantly associated with the presence and severity of nonalcoholic fatty liver disease in a Korean population.
Why the study?
Are genetic polymorphisms of PNPLA3 and SAMM50 associated with NAFLD in a Korean population?
Case-Control (n=6,290)
No
Are genetic polymorphisms of PNPLA3 and SAMM50 associated with NAFLD in a Korean population?
Odds Ratio: 1.537 (95% CI 1.383–1.709)
p-value: p=1.74x10^-15
Genetic polymorphisms in PNPLA3 and SAMM50 are associated with NAFLD in the Korean population, confirming the role of genetics in its pathogenesis.
May refine NAFLD risk assessment in Koreans; leaves open validation and clinical translation in diverse populations.
BACKGROUND/AIMS: The development of nonalcoholic fatty liver disease (NAFLD) is associated with multiple genetic and environmental factors. METHODS: We performed a genome-wide association study to identify the genetic factors related to NAFLD in a Korean population-based sample of 1,593 subjects with NAFLD and 2,816 controls. We replicated the data in another sample that included 744 NAFLD patients and 1,137 controls. We investigated single-nucleotide polymorphisms (SNPs) that were related to NAFLD. RESULTS: in the validation set). CONCLUSIONS: genes are significantly associated with the presence and severity of NAFLD in a Korean population. These findings confirm the important roles of genetic factors in the pathogenesis of NAFLD.
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Chung et al. (2017) conducted a case-control in Nonalcoholic Fatty Liver Disease (NAFLD) (n=6,290). PNPLA3 and SAMM50 genetic polymorphisms vs. Controls without NAFLD was evaluated on Presence of NAFLD (rs738409 variant in PNPLA3) (OR 1.537, 95% CI 1.383-1.709, p=1.74x10^-15). Genetic polymorphisms in the PNPLA3 (e.g., rs738409, OR 1.537) and SAMM50 genes were significantly associated with the presence and severity of nonalcoholic fatty liver disease in a Korean population.
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