RGD Reference Report - Polymorphisms of interleukin-1 beta and beta 3-adrenergic receptor in Japanese patients with nonalcoholic steatohepatitis. - Rat Genome Database

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Polymorphisms of interleukin-1 beta and beta 3-adrenergic receptor in Japanese patients with nonalcoholic steatohepatitis.

Authors: Nozaki, Y  Saibara, T  Nemoto, Y  Ono, M  Akisawa, N  Iwasaki, S  Hayashi, Y  Hiroi, M  Enzan, H  Onishi, S 
Citation: Nozaki Y, etal., Alcohol Clin Exp Res. 2004 Aug;28(8 Suppl Proceedings):106S-110S.
RGD ID: 5684892
Pubmed: PMID:15318095   (View Abstract at PubMed)

BACKGROUND: Obesity, hypertriglyceridemia, and diabetes have been reported as frequent complications observed in patients with nonalcoholic steatohepatitis (NASH) in Western countries. The aim of this study was to investigate the genetic predisposition on NASH pathogenesis in the Japanese population. METHODS: Genotypes of two previously described functional polymorphisms-beta3-adrenergic receptor 190 T/A polymorphism, which results in Trp64Arg (W64R) amino acid replacement, and interleukin-1beta-511 T/C polymorphism in the promoter sequence-were determined in 63 Japanese NASH patients and 100 healthy volunteers using polymerase chain reaction and restriction fragment length polymorphism. RESULTS: beta3-adrenergic receptor R allele frequency and the R/- (W/R and R/R) genotype frequency were significantly higher in NASH patients than those in control subjects. Interleukin-1beta-511 T allele frequency and the T/T genotype frequency were significantly higher in NASH patients than those in control subjects. Obesity, hypertriglyceridemia, and hyperinsulinemia were associated with NASH patients with the R/- genotype, whereas an increase in fasting plasma glucose level and a decrease in insulinogenic index were associated with NASH patients with the W/W genotype. CONCLUSION: This study confirmed the contribution of obesity, glucose intolerance, and hypertriglyceridemia to NASH development in the Japanese population. In addition to these factors, genetic predispositions to obesity and inflammation in the Japanese population were shown to contribute much to the development of NASH.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
ADRB3Humanmetabolic dysfunction-associated steatotic liver disease  IAGP DNA:missense mutation:cds:p.W64R (rs4994) (human)RGD 
Adrb3Ratmetabolic dysfunction-associated steatotic liver disease  ISOADRB3 (Homo sapiens)DNA:missense mutation:cds:p.W64R (rs4994) (human)RGD 
Adrb3Mousemetabolic dysfunction-associated steatotic liver disease  ISOADRB3 (Homo sapiens)DNA:missense mutation:cds:p.W64R (rs4994) (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
ADRB3HumanChronic hepatitis  IAGP DNA:missense mutation:cds:p.W64R (rs4994)RGD 
ADRB3HumanMacrovesicular hepatic steatosis  IAGP DNA:missense mutation:cds:p.W64R (rs4994)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Adrb3  (adrenoceptor beta 3)

Genes (Mus musculus)
Adrb3  (adrenergic receptor, beta 3)

Genes (Homo sapiens)
ADRB3  (adrenoceptor beta 3)


Additional Information