4 research outputs found
Influence of ethnicity on the distribution of genetic polymorphisms associated with risk of chronic liver disease in South American populations
BACKGROUND: The global burden of chronic liver disease is rising. Besides environmental, behavioral, viral and metabolic factors, genetic polymorphisms in patatin-like phospholipase-3 (PNPLA3) and vitamin D receptor (VDR) genes have been related to the development of chronic liver disease and progression towards liver cancer. Although their prevalence differs remarkably among ethnic groups, the frequency of these polymorphisms in South American populations -whose genetic background is highly admixed- has been poorly studied. Hence, the aim of this study was to characterize polymorphisms related to chronic liver disease and their association with the genetic ancestry of South American populations. RESULTS: DNA samples from 258 healthy unrelated male volunteers were analyzed. The frequencies of G and C alleles of rs738409 polymorphism (PNPLA3 gene) were 74 % and 26 %, respectively; whereas the bAt (CCA) haplotype (VDR gene) was observed in 32.5 % of the samples. The GG genotype of PNPLA3 rs738409 and the bAt (CCA) haplotype -associated with an increased risk of chronic liver disease and progression towards liver cancer- were significantly more frequent among samples exhibiting maternal and paternal Native American haplogroups (63.7 % and 64.6 %), intermediate among admixed samples (45.1 % and 44.9 %; p = 0.03) and the lowest for Non-native American ancestry (30.1 % and 29.6 %; p = 0.001 and p = 0.0008). CONCLUSIONS: These results suggest that individuals with Native American ancestry might have a high risk of chronic liver disorders and cancer. Furthermore, these data not only support the molecular evaluation of ancestry in multi-ethnic population studies, but also suggest that the characterization of these variants in South American populations may be useful for establishing public health policies aimed at high risk ethnic communities.Fil: Pontoriero, Ana Cecilia. Hospital Italiano. Instituto de Ciencias Básicas y Medicina Experimental; Argentina. Consejo Nacional de Investigaciones CientĂficas y TĂ©cnicas; ArgentinaFil: Trinks, Julieta. Hospital Italiano. Instituto de Ciencias Básicas y Medicina Experimental; Argentina. Consejo Nacional de Investigaciones CientĂficas y TĂ©cnicas; ArgentinaFil: Hulaniuk, MarĂa Laura. Hospital Italiano. Instituto de Ciencias Básicas y Medicina Experimental; ArgentinaFil: Caputo, Mariela. Universidad de Buenos Aires. Facultad de Farmacia y BioquĂmica. Servicio de Huellas Digitales GenĂ©ticas; Argentina. Consejo Nacional de Investigaciones CientĂficas y TĂ©cnicas; ArgentinaFil: Fortuny, Lisandro. Hospital Italiano; ArgentinaFil: Burgos Pratx, Leandro. Hospital Italiano; ArgentinaFil: FrĂas, AnalĂa. Hospital Materno Infantil “RamĂłn Sardá”; ArgentinaFil: Torres, Oscar. Hospital Materno Infantil “RamĂłn Sardá”; ArgentinaFil: Nuñez, FĂ©lix. Hospital Italiano; ArgentinaFil: Gadano, Adrián. Hospital Italiano; ArgentinaFil: Argibay, Pab lo. Hospital Italiano. Instituto de Ciencias Básicas y Medicina Experimental; Argentina. Consejo Nacional de Investigaciones CientĂficas y TĂ©cnicas; ArgentinaFil: Corach, Daniel. Universidad de Buenos Aires. Facultad de Farmacia y BioquĂmica. Servicio de Huellas Digitales GenĂ©ticas; Argentina. Consejo Nacional de Investigaciones CientĂficas y TĂ©cnicas; ArgentinaFil: Flichman, Diego Martin. Consejo Nacional de Investigaciones CientĂficas y TĂ©cnicas; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y BioquĂmica. Departamento de MicrobiologĂa, InmunologĂa y BiotecnologĂa. Cátedra de VirologĂa; Argentin
Distribution of genetic polymorphisms associated to hepatitis c virus (HCV) antiviral response in a multiethnic and admixed population
2 p.Single-nucleotide polymorphisms (SNPs) near IL28B and ITPA genes have been described as predictors of response to antiviral treatment and ribavirin induced-hemolytic anemia in HCV patients, respectively. The prevalence of these polymorphisms differs among ethnic groups; however, there is a paucity of information about South American populations. Hence, the aim of this study was to determine the prevalence of these SNPs in the healthy population of different ethnic groups residing in Argentina.http://www.viral-hep.org/default.aspxFil: Thinks, Julieta. Hospital Italiano de Buenos Aires. Instituto de Ciencias Básicas y Medicina Experimental; Argentina.Fil: Caputo, Mariela. Universidad de Buenos Aires. Facultad de Farmacia y BioquĂmica. Servicio de Huellas Digitales GenĂ©ticas; Argentina.Fil: Hulaniuk, MarĂa Laura. Hospital Italiano de Buenos Aires. Instituto de Ciencias Básicas y Medicina Experimental; Argentina.Fil: Burgos Pratx, Leandro. Servicio de Medicina Transfusional; Argentina.Fil: RĂ©, Viviana. Universidad Nacional de CĂłrdoba. Facultad de Ciencias MĂ©dicas. Instituto de VirologĂa Dr. JosĂ© MarĂa Vanella; Argentina.Fil: Fortuny, Lisandro. Servicio de Medicina Transfusional; Argentina.Fil: FrĂas, AnalĂa. Servicio de Medicina Transfusional; Argentina.Fil: Torres, Oscar. Servicio de Medicina Transfusional; Argentina.Fil: Nuñez, FĂ©lix. Servicio de Medicina Transfusional; Argentina.Fil: Gadano, Adrián. Servicio de HepatologĂa; Argentina.Fil: Corach, Daniel. Universidad de Buenos Aires. Facultad de Farmacia y BioquĂmica. Servicio de Huellas Digitales GenĂ©ticas; Argentina.Fil: Flichman, Diego MartĂn. Universidad de Buenos Aires. Facultad de Farmacia y BioquĂmica. Servicio de Huellas Digitales GenĂ©ticas; Argentina.Otras Ciencias de la Salu