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KMID : 1188320180120030316
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Gut and Liver
2018 Volume.12 No. 3 p.316 ~ p.323
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Genetic Polymorphisms of PNPLA3 and SAMM50 Are Associated with Nonalcoholic Fatty Liver Disease in a Korean Population
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Chung Goh-Eun
Lee Young
Yim Jeong-Yoon
Choe Eun-Kyung
Kwak Min-Sun
Yang Jong-In
Park Bo-Ram
Lee Jong-Eun
Kim Jeong-A
Kim Joo-Sung
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Abstract
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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: After adjusting for age, sex and body mass index, rs738409, rs12483959 and rs2281135, located in the PNPLA3 gene, were validated in our population (p＜8.56×10-8) in the same linkage disequilibrium block. Additionally, rs2143571, rs3761472, and rs2073080 in the SAMM50 gene showed significant associations with NAFLD (p＜8.56×10-8). Furthermore, these six SNPs showed significant associations with the severity of fatty liver (all p＜2.0×10-10 in the discovery set and p＜2.0×10-6 in the validation set) and NAFLD, with elevated levels of alanine aminotransferase (all p＜2.0×10-10 in the discovery set and p＜2.0×10-6 in the validation set).
Conclusions: We demonstrated that the PNPLA3 and SAMM50 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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KEYWORD
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Non-alcoholic fatty liver disease, Genome-wide association study, Polymorphism, single nucleotide
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