Genetic Polymorphisms of PNPLA3 and SAMM50 Are Associated with Nonalcoholic Fatty Liver Disease in a Korean Population
Gut and Liver
;
: 316-323, 2018.
Artigo
em Inglês
| WPRIM
| ID: wpr-714609
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 < 2.0×10⁻¹⁰ 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Polimorfismo Genético
/
Índice de Massa Corporal
/
Desequilíbrio de Ligação
/
Polimorfismo de Nucleotídeo Único
/
Alanina Transaminase
/
Estudo de Associação Genômica Ampla
/
Fígado Gorduroso
/
Hepatopatia Gordurosa não Alcoólica
Tipo de estudo:
Estudo prognóstico
Limite:
Humanos
Idioma:
Inglês
Revista:
Gut and Liver
Ano de publicação:
2018
Tipo de documento:
Artigo
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