Influence of ethnicity on the distribution of genetic polymorphisms associated with risk of chronic liver disease in South American populationsReport as inadecuate

Influence of ethnicity on the distribution of genetic polymorphisms associated with risk of chronic liver disease in South American populations - Download this document for free, or read online. Document in PDF available to download.

BMC Genetics

, 16:93

Human population genetics


BackgroundThe 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.

ResultsDNA 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.

ConclusionsThese 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.

KeywordsChronic liver disease Liver cancer PNPLA3 gene VDR gene Polymorphism Ethnicity South America AbbreviationsEDTAEthylenediaminetetraacetic acid

HBVHepatitis B virus

HCCHepatocellular carcinoma

HCVHepatitis C virus

mtDNAMitochondrial DNA

nSample size

NAFLDNon-alcoholic fatty liver disease

NASHNon-alcoholic steatohepatitis

PCRPolymerase chain reaction

PNPLA3Patatin-like phospholipase 3

SDStandard deviation

SNPSingle-nucleotide polymorphism

VDRVitamin D receptor

Y-SNPsY-chromosome single-nucleotide polymorphisms

Electronic supplementary materialThe online version of this article doi:10.1186-s12863-015-0255-3 contains supplementary material, which is available to authorized users.

Pablo Argibay deceased.

Download fulltext PDF

Author: Ana Cecilia Pontoriero - Julieta Trinks - María Laura Hulaniuk - Mariela Caputo - Lisandro Fortuny - Leandro Burgos Prat


Related documents