title: Influence of ethnicity on the distribution of genetic polymorphisms associated with risk of chronic liver disease in South American populations.
abstract: 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.
authors.affiliation: Instituto de Ciencias Básicas y Medicina Experimental (ICBME), Hospital Italiano de Buenos Aires, Potosí 4240, C1199ACL, Buenos Aires, Argentina. ana.pontoriero@hospitalitaliano.org.ar.
authors.forename: Ana Cecilia
authors.initials: AC
authors.lastname: Pontoriero
authors.affiliation: Instituto de Ciencias Básicas y Medicina Experimental (ICBME), Hospital Italiano de Buenos Aires, Potosí 4240, C1199ACL, Buenos Aires, Argentina. julieta.trinks@hospitalitaliano.org.ar.|National Scientific and Technical Research Council (CONICET), Av. Rivadavia 1917, C1033AAJ, Buenos Aires, Argentina. julieta.trinks@hospitalitaliano.org.ar.
authors.forename: Julieta
authors.initials: J
authors.lastname: Trinks
authors.affiliation: Instituto de Ciencias Básicas y Medicina Experimental (ICBME), Hospital Italiano de Buenos Aires, Potosí 4240, C1199ACL, Buenos Aires, Argentina. maria.hulaniuk@hospitalitaliano.org.ar.
authors.forename: María Laura
authors.initials: ML
authors.lastname: Hulaniuk
authors.affiliation: National Scientific and Technical Research Council (CONICET), Av. Rivadavia 1917, C1033AAJ, Buenos Aires, Argentina. caputomariela@yahoo.com.ar.|Servicio de Huellas Digitales Genéticas, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires, Junín 954, C1113AAD, Buenos Aires, Argentina. caputomariela@yahoo.com.ar.
authors.forename: Mariela
authors.initials: M
authors.lastname: Caputo
authors.affiliation: Servicio de Medicina Transfusional, Hospital Italiano de Buenos Aires, Juan D. Perón 4190, C1181ACH, Buenos Aires, Argentina. lisandro.fortuny@hospitalitaliano.org.ar.
authors.forename: Lisandro
authors.initials: L
authors.lastname: Fortuny
authors.affiliation: Servicio de Medicina Transfusional, Hospital Italiano de Buenos Aires, Juan D. Perón 4190, C1181ACH, Buenos Aires, Argentina. leandro.burgos@hospitalitaliano.org.ar.
authors.forename: Leandro Burgos
authors.initials: LB
authors.lastname: Pratx
authors.affiliation: Servicio de Medicina Transfusional, Hospital Materno Infantil "Ramón Sardá", Esteban de Luca 2151, C1246ABQ, Buenos Aires, Argentina. analia.frias@hotmail.com.
authors.forename: Analía
authors.initials: A
authors.lastname: Frías
authors.affiliation: Servicio de Medicina Transfusional, Hospital Materno Infantil "Ramón Sardá", Esteban de Luca 2151, C1246ABQ, Buenos Aires, Argentina. owtorres@gmail.com.
authors.forename: Oscar
authors.initials: O
authors.lastname: Torres
authors.affiliation: Servicio de Medicina Transfusional, Hospital Italiano de Buenos Aires, Juan D. Perón 4190, C1181ACH, Buenos Aires, Argentina. felix.nunez@hospitalitaliano.org.ar.
authors.forename: Félix
authors.initials: F
authors.lastname: Nuñez
authors.affiliation: Servicio de Hepatología, Hospital Italiano de Buenos Aires, Juan D. Perón 4190, C1181ACH, Buenos Aires, Argentina. adrian.gadano@hospitalitaliano.org.ar.
authors.forename: Adrián
authors.initials: A
authors.lastname: Gadano
authors.affiliation: Instituto de Ciencias Básicas y Medicina Experimental (ICBME), Hospital Italiano de Buenos Aires, Potosí 4240, C1199ACL, Buenos Aires, Argentina. pablo.argibay@hospitalitaliano.org.ar.|National Scientific and Technical Research Council (CONICET), Av. Rivadavia 1917, C1033AAJ, Buenos Aires, Argentina. pablo.argibay@hospitalitaliano.org.ar.
authors.forename: Pablo
authors.initials: P
authors.lastname: Argibay
authors.affiliation: National Scientific and Technical Research Council (CONICET), Av. Rivadavia 1917, C1033AAJ, Buenos Aires, Argentina. dcorach@ffyb.uba.ar.|Servicio de Huellas Digitales Genéticas, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires, Junín 954, C1113AAD, Buenos Aires, Argentina. dcorach@ffyb.uba.ar.
authors.forename: Daniel
authors.initials: D
authors.lastname: Corach
authors.affiliation: National Scientific and Technical Research Council (CONICET), Av. Rivadavia 1917, C1033AAJ, Buenos Aires, Argentina. dflichman@ffyb.uba.ar.|Cátedra de Virología, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires, Junín 954, C1113AAD, Buenos Aires, Argentina. dflichman@ffyb.uba.ar.
authors.forename: Diego
authors.initials: D
authors.lastname: Flichman
mesh_terms: D000483:Alleles; D002908:Chronic Disease; D005006:Ethnicity / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008107:Liver Diseases / Q000453:epidemiology* / Q000209:etiology*; D008297:Male; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D015995:Prevalence; D012306:Risk; D012307:Risk Factors; D013020:South America / Q000453:epidemiology / Q000208:ethnology