Gut Liver.  2018 May;12(3):316-323. 10.5009/gnl17306.

Genetic Polymorphisms of PNPLA3 and SAMM50 Are Associated with Nonalcoholic Fatty Liver Disease in a Korean Population

• Chung GE
• Lee Y
• Yim JY
• Choe EK
• Kwak MS
• Yang JI
• Park B
• Lee JE
• Kim JA
• Kim JS

• KMID: 2411677
• DOI: http://doi.org/10.5009/gnl17306

Abstract

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 < 2.0×10⁻¹â° in the discovery set and p < 2.0×10⁻⁶ in the validation set) and NAFLD, with elevated levels of alanine aminotransferase (all p < 2.0×10⁻¹â° 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.

Keyword

Non-alcoholic fatty liver disease; Genome-wide association study; Polymorphism, single nucleotide

MeSH Terms

Alanine Transaminase
Body Mass Index
Fatty Liver
Genome-Wide Association Study
Humans
Linkage Disequilibrium
Non-alcoholic Fatty Liver Disease*
Polymorphism, Genetic*
Polymorphism, Single Nucleotide
Alanine Transaminase