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Start Over Descriptor "Gastroenterología y hepatología" Journal hepatology
3 results on '"Gastroenterología y hepatología"'

1. Genetics Meets Therapy? Exome‐wide Association Study Reveals a Loss‐of‐Function Variant in 17‐Beta‐Hydroxysteroid Dehydrogenase 13 That Protects Patients From Liver Damage and Nonalcoholic Fatty Liver Disease Progression

Author

Silvia Cristina Sookoian, Carlos José Pirola, and Marco Arrese

Subjects
0301 basic medicine, CIENCIAS MÉDICAS Y DE LA SALUD, GENETICS, Genética Humana, Medicina Clínica, HSD17B13, 03 medical and health sciences, 0302 clinical medicine, Nonalcoholic fatty liver disease, medicine, Beta-hydroxysteroid dehydrogenase, Gastroenterología y Hepatología, Liver damage, Exome, Loss function, Hepatology, business.industry, Disease progression, NASH, TREATMENT, medicine.disease, Medicina Básica, 030104 developmental biology, Cancer research, 030211 gastroenterology & hepatology, business
Abstract

Fil: Sookoian, Silvia Cristina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina Fil: Arrese, Marco. Pontificia Universidad Católica de Chile; Chile. Universidad Católica de Chile; Chile Fil: Pirola, Carlos José. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina

Published
2018
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2. Genetic variation in transmembrane 6 superfamily member 2 and the risk of nonalcoholic fatty liver disease and histological disease severity

Author

Adriana Laura Burgueño, Pablo Mallardi, Tomás Fernández Gianotti, Romina Scian, Carlos José Pirola, Silvia Cristina Sookoian, Julio San Martino, and Gustavo Osvaldo Castaño

Subjects
medicine.medical_specialty, Pathology, CIENCIAS MÉDICAS Y DE LA SALUD, Hepatology, Fatty liver, Case-control study, FATTY LIVER, Medicina Clínica, METABOLISM, Biology, medicine.disease, Gastroenterology, TM6SF2, Internal medicine, Genetic model, Nonalcoholic fatty liver disease, medicine, Genetic predisposition, GENE VARIANTS, Gastroenterología y Hepatología, Allele
Abstract

We explored the role of transmembrane 6 superfamily member 2 (TM6SF2) rs58542926 C/T nonsynonymous (p.Glu167Lys) variant in genetic susceptibility to nonalcoholic fatty liver disease (NAFLD) and disease severity. A total of 361 individuals (135 control subjects and 226 patients with histologically proven NAFLD) were included in a sample with 97% power for the additive genetic model. A discrete trait analysis of NAFLD showed that rs58542926 was associated with a modest risk of fatty liver (P = 0.038; odds ratio [OR]: 1.37; 95% confidence interval [CI]: 1.02-1.84); nevertheless, conditioning on patatin-like phospholipase domain-containing 3 (PNPLA3)-rs738409 abolished this effect. We did not observe an interaction between rs738409 and rs58542926 variants on the risk of NAFLD. We observed a significant association of rs58542926 and disease severity (P = 0.027), but not lobular inflammation or fibrosis; rs58542926 was not associated with levels of liver enzymes. An allelic test showed that the T (Lys167) allele was significantly associated with disease progression (P = 0.021; OR, 1.66; 95% CI: 1.08-2.55). A significant association was found with the histological degree of liver steatosis (β, 0.15; standard error: 0.06; P = 0.0299) that was independent of rs738409. Homozygous carriers of the C (Glu167) allele showed increased risk for cardiovascular disease. TM6SF2 protein expression was decreased markedly in liver of NAFLD patients, compared to controls. In addition, TM6SF2 immunoreactivity was reduced in subjects carrying at least one copy of the T allele, consistent with a difference in liver allele-specific transcript abundance. Conclusion: rs58542926 is a low-frequency variant with a modest effect on NAFLD, suggesting that carriers of the T allele are slightly more likely to accumulate fat in the liver and develop nonalcoholic steatohepatitis than those without. TM6SF2 appears to play a significant role in disease biology. Fil: Sookoian, Silvia Cristina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina Fil: Castaño, Gustavo Osvaldo. Gobierno de la Ciudad de Buenos Aires. Hospital "Dr. Abel Zubizarreta"; Argentina Fil: Scian, Romina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina Fil: Mallardi, Pablo. Hospital Diego Thompson; Argentina Fil: Fernandez Gianotti, Tomas. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina Fil: Burgueño, Adriana Laura. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina Fil: San Martino, Julio. Hospital Diego Thompson; Argentina Fil: Pirola, Carlos José. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina

Published
2015
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3. PNPLA3, the history of an orphan gene of the potato tuber protein family that found an organ: The liver

Author

Silvia Cristina Sookoian and Carlos José Pirola

Subjects
CIENCIAS MÉDICAS Y DE LA SALUD, Carcinoma, Hepatocellular, Hepatology, Protein family, biology, Systems biology, Liver Neoplasms, Membrane Proteins, Medicina Clínica, Lipase, Orphan gene, Membrane protein, Biochemistry, purl.org/becyt/ford/3.2 [https], SYSTEMS BIOLOGY, biology.protein, Humans, purl.org/becyt/ford/3 [https], Gastroenterología y Hepatología, HEPATOCARCINOMA, PNPLA3, POLYMORPHISMS
Abstract

The patatin-like phospholipase domain containing 3 gene (PNPLA3) was an orphan gene looking for a disease until 2008 when the first genome-wide association study (GWAS) on nonalcoholic fatty liver disease (NAFLD) showed the association between the risk of liver fat accumulation and the nonsynonymous rs738409 C/G variant. Fil: Sookoian, Silvia Cristina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina Fil: Pirola, Carlos José. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina

Published
2014
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