Source:http://linkedlifedata.com/resource/pubmed/id/19738004
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
10
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pubmed:dateCreated |
2009-9-9
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pubmed:abstractText |
We explored the role of the adiponutrin (PNPLA3) nonsynonymous-rs738409 single nucleotide polymorphism (SNP) in genetic susceptibility to nonalcoholic fatty liver disease (NAFLD) and whether this SNP contributes to the severity of histological disease. Two hundred sixty-six individuals were evaluated in a case-control association study, which included 172 patients with features of NAFLD and 94 control subjects. The rs738409 G allele was significantly associated with NAFLD (P < 0.001; OR 2.8 95%, CI 1.5-5.2), independent of age, sex, body mass index (BMI), and Homeostasis Model Assessment (HOMA) index. When we tested the hypothesis of a relation between the SNP and the histological spectrum of NAFLD, a significant association was observed [chi2 19.9, degree of freedom (df): 2, P < 5 x 10(-5), adjusted for HOMA and BMI]. The degree of liver steatosis, as evaluated by liver biopsy, was significantly associated with the rs738409 G allele. Patients with CC genotype showed a lower steatosis score (14.9% +/- 3.9) in comparison with the CG genotype (26.3% +/- 3.5) and GG genotype (33.3% +/- 4.0) (P < 0.005). The proportion of the total variation attributed to rs738409 genotypes was 5.3% (beta 0.23 +/- 0.07; P < 0.002). Our data suggest that the rs738409 G allele is associated not only with fat accumulation in the liver but also with liver injury, possibly triggered by lipotoxicity.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
0022-2275
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
50
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
2111-6
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pubmed:meshHeading |
pubmed-meshheading:19738004-Adult,
pubmed-meshheading:19738004-Cross-Sectional Studies,
pubmed-meshheading:19738004-Fatty Liver,
pubmed-meshheading:19738004-Female,
pubmed-meshheading:19738004-Genetic Predisposition to Disease,
pubmed-meshheading:19738004-Genotype,
pubmed-meshheading:19738004-Humans,
pubmed-meshheading:19738004-Male,
pubmed-meshheading:19738004-Membrane Proteins,
pubmed-meshheading:19738004-Middle Aged,
pubmed-meshheading:19738004-Polymorphism, Single Nucleotide
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pubmed:year |
2009
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pubmed:articleTitle |
A nonsynonymous gene variant in the adiponutrin gene is associated with nonalcoholic fatty liver disease severity.
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pubmed:affiliation |
Laboratory of Clinical and Molecular Hepatology, Department of Molecular Genetics and Biology of Complex Diseases, Institute of Medical Research, University of Buenos Aires-CONICET, Ciudad Autónoma de Buenos Aires, Argentina. ssookoian@lanari.fmed.uba.ar
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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