A nonsynonymous gene variant in the adiponutrin gene is associated with nonalcoholic fatty liver disease severity
- Autores
- Sookoian, Silvia Cristina; Castaño, Gustavo Osvaldo; Burgueño, Adriana Laura; Gianotti, Tomas Fernández; Rosselli, Maria Soledad; Pirola, Carlos José
- Año de publicación
- 2009
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- 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 × 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% (β 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.
Fil: Sookoian, Silvia Cristina. Universidad de Buenos Aires; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital "Dr. Abel Zubizarreta"; Argentina
Fil: Castaño, Gustavo Osvaldo. Universidad de Buenos Aires; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital "Dr. Abel Zubizarreta"; Argentina
Fil: Burgueño, Adriana Laura. Universidad de Buenos Aires; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Gianotti, Tomas Fernández. Universidad de Buenos Aires; Argentina
Fil: Rosselli, Maria Soledad. Universidad de Buenos Aires; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Pirola, Carlos José. Universidad de Buenos Aires; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina - Materia
-
FATTY LIVER
GENETIC VARIANTS
PNPLA3
NASH - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
- Repositorio
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/103130
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A nonsynonymous gene variant in the adiponutrin gene is associated with nonalcoholic fatty liver disease severitySookoian, Silvia CristinaCastaño, Gustavo OsvaldoBurgueño, Adriana LauraGianotti, Tomas FernándezRosselli, Maria SoledadPirola, Carlos JoséFATTY LIVERGENETIC VARIANTSPNPLA3NASHhttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3We 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 × 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% (β 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.Fil: Sookoian, Silvia Cristina. Universidad de Buenos Aires; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital "Dr. Abel Zubizarreta"; ArgentinaFil: Castaño, Gustavo Osvaldo. Universidad de Buenos Aires; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital "Dr. Abel Zubizarreta"; ArgentinaFil: Burgueño, Adriana Laura. Universidad de Buenos Aires; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Gianotti, Tomas Fernández. Universidad de Buenos Aires; ArgentinaFil: Rosselli, Maria Soledad. Universidad de Buenos Aires; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Pirola, Carlos José. Universidad de Buenos Aires; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaAmerican Society for Biochemistry and Molecular Biology2009-10info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfapplication/pdfapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/103130Sookoian, Silvia Cristina; Castaño, Gustavo Osvaldo; Burgueño, Adriana Laura; Gianotti, Tomas Fernández; Rosselli, Maria Soledad; et al.; A nonsynonymous gene variant in the adiponutrin gene is associated with nonalcoholic fatty liver disease severity; American Society for Biochemistry and Molecular Biology; Journal of Lipid Research Papers In Press; 50; 10; 10-2009; 2111-21160022-22751539-7262CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1194/jlr.P900013-JLR200info:eu-repo/semantics/altIdentifier/url/https://www.jlr.org/content/50/10/2111info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-03T09:56:02Zoai:ri.conicet.gov.ar:11336/103130instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-03 09:56:02.455CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse |
dc.title.none.fl_str_mv |
A nonsynonymous gene variant in the adiponutrin gene is associated with nonalcoholic fatty liver disease severity |
title |
A nonsynonymous gene variant in the adiponutrin gene is associated with nonalcoholic fatty liver disease severity |
spellingShingle |
A nonsynonymous gene variant in the adiponutrin gene is associated with nonalcoholic fatty liver disease severity Sookoian, Silvia Cristina FATTY LIVER GENETIC VARIANTS PNPLA3 NASH |
title_short |
A nonsynonymous gene variant in the adiponutrin gene is associated with nonalcoholic fatty liver disease severity |
title_full |
A nonsynonymous gene variant in the adiponutrin gene is associated with nonalcoholic fatty liver disease severity |
title_fullStr |
A nonsynonymous gene variant in the adiponutrin gene is associated with nonalcoholic fatty liver disease severity |
title_full_unstemmed |
A nonsynonymous gene variant in the adiponutrin gene is associated with nonalcoholic fatty liver disease severity |
title_sort |
A nonsynonymous gene variant in the adiponutrin gene is associated with nonalcoholic fatty liver disease severity |
dc.creator.none.fl_str_mv |
Sookoian, Silvia Cristina Castaño, Gustavo Osvaldo Burgueño, Adriana Laura Gianotti, Tomas Fernández Rosselli, Maria Soledad Pirola, Carlos José |
author |
Sookoian, Silvia Cristina |
author_facet |
Sookoian, Silvia Cristina Castaño, Gustavo Osvaldo Burgueño, Adriana Laura Gianotti, Tomas Fernández Rosselli, Maria Soledad Pirola, Carlos José |
author_role |
author |
author2 |
Castaño, Gustavo Osvaldo Burgueño, Adriana Laura Gianotti, Tomas Fernández Rosselli, Maria Soledad Pirola, Carlos José |
author2_role |
author author author author author |
dc.subject.none.fl_str_mv |
FATTY LIVER GENETIC VARIANTS PNPLA3 NASH |
topic |
FATTY LIVER GENETIC VARIANTS PNPLA3 NASH |
purl_subject.fl_str_mv |
https://purl.org/becyt/ford/3.2 https://purl.org/becyt/ford/3 |
dc.description.none.fl_txt_mv |
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 × 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% (β 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. Fil: Sookoian, Silvia Cristina. Universidad de Buenos Aires; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital "Dr. Abel Zubizarreta"; Argentina Fil: Castaño, Gustavo Osvaldo. Universidad de Buenos Aires; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital "Dr. Abel Zubizarreta"; Argentina Fil: Burgueño, Adriana Laura. Universidad de Buenos Aires; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Gianotti, Tomas Fernández. Universidad de Buenos Aires; Argentina Fil: Rosselli, Maria Soledad. Universidad de Buenos Aires; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Pirola, Carlos José. Universidad de Buenos Aires; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina |
description |
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 × 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% (β 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. |
publishDate |
2009 |
dc.date.none.fl_str_mv |
2009-10 |
dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://purl.org/coar/resource_type/c_6501 info:ar-repo/semantics/articulo |
format |
article |
status_str |
publishedVersion |
dc.identifier.none.fl_str_mv |
http://hdl.handle.net/11336/103130 Sookoian, Silvia Cristina; Castaño, Gustavo Osvaldo; Burgueño, Adriana Laura; Gianotti, Tomas Fernández; Rosselli, Maria Soledad; et al.; A nonsynonymous gene variant in the adiponutrin gene is associated with nonalcoholic fatty liver disease severity; American Society for Biochemistry and Molecular Biology; Journal of Lipid Research Papers In Press; 50; 10; 10-2009; 2111-2116 0022-2275 1539-7262 CONICET Digital CONICET |
url |
http://hdl.handle.net/11336/103130 |
identifier_str_mv |
Sookoian, Silvia Cristina; Castaño, Gustavo Osvaldo; Burgueño, Adriana Laura; Gianotti, Tomas Fernández; Rosselli, Maria Soledad; et al.; A nonsynonymous gene variant in the adiponutrin gene is associated with nonalcoholic fatty liver disease severity; American Society for Biochemistry and Molecular Biology; Journal of Lipid Research Papers In Press; 50; 10; 10-2009; 2111-2116 0022-2275 1539-7262 CONICET Digital CONICET |
dc.language.none.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
info:eu-repo/semantics/altIdentifier/doi/10.1194/jlr.P900013-JLR200 info:eu-repo/semantics/altIdentifier/url/https://www.jlr.org/content/50/10/2111 |
dc.rights.none.fl_str_mv |
info:eu-repo/semantics/openAccess https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ |
eu_rights_str_mv |
openAccess |
rights_invalid_str_mv |
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ |
dc.format.none.fl_str_mv |
application/pdf application/pdf application/pdf application/pdf application/pdf application/pdf application/pdf |
dc.publisher.none.fl_str_mv |
American Society for Biochemistry and Molecular Biology |
publisher.none.fl_str_mv |
American Society for Biochemistry and Molecular Biology |
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reponame:CONICET Digital (CONICET) instname:Consejo Nacional de Investigaciones Científicas y Técnicas |
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CONICET Digital (CONICET) |
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Consejo Nacional de Investigaciones Científicas y Técnicas |
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CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas |
repository.mail.fl_str_mv |
dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar |
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1842269379303047168 |
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13.13397 |