Influence of ethnicity on the distribution of genetic polymorphisms associated with progression of liver disease in South American populations

ANA CECILIA PONTORIERO; JULIETA TRINKS; MARÍA LAURA HULANIUK; MARIELA CAPUTO; LISANDRO FORTUNY; LEANDRO BURGOS PRATX; ANALÍA FRÍAS; OSCAR TORRES; FÉLIX NUÑEZ; ADRIÁN GADANO; PABLO ARGIBAY; DANIEL CORACH; DIEGO FLICHMAN

Buenos Aires

Congreso; International Congress in Translational Medicine.; 2014

International Master in Biomedical Sciences

Background and aim: A rapidly growing literature recognizes single-nucleotide polymorphisms (SNPs) in PNPLA3 and VDR genes as risk factors for liver steatosis, fibrosis, cirrhosis and hepatocellular carcinoma. Although the prevalence of these polymorphisms differs among ethnic groups, their frequency in South American populations -whose genetic background is highly admixed- has been poorly studied. Hence, the aim was to analyze the prevalence of these polymorphisms in the healthy population from Argentina, Bolivia, Paraguay and Perú. Methods: DNA samples were obtained from 372 unrelated healthy volunteers. SNPs in PNPLA3 (rs738409) and VDR (rs1544410, rs7975332, rs731236) genes were characterized by DNA sequencing. Ethnicity was assessed by analysis in mitochondrial DNA and Y-SNPs using Real-Time PCR followed by High Resolution Melting. Fisher?s exact test was used for statistical analysis. Results: The distribution of PNPLA3 and VDR polymorphisms differs significantly depending on the ethnic background. The rs738409GG polymorphism (PNPLA3 gene) and the CCCCAA haplotype (VDR gene) -related to an increased predisposition to liver disease- were significantly higher among samples with maternal and paternal Native American lineages (63.7% and 64.6%), intermediate among admixed samples (45.1% and 44.9%; p