Mitochondrial haplogroups in oncohematological, colorectal and breast cancer samples from CABA and Buenos Aires province (Argentina)

CERLIANI MARÍA BELEN; TAMARA PIÑERO; HERNÁN GARCÍA RIVELLO; WALTER PAVICIC; ANACLARA SANCHEZ DOVA; ANDREA CONSTANZA MAYORDOMO; FEDERICO JAUK VITALI; ANDREA ROMINA CAJAL; SILVINA RICHARD; CARLOS VACCARO; CERLIANI MARÍA BELEN; CLAUDIO M. BRAVI; TAMARA PIÑERO; HERNÁN GARCÍA RIVELLO; WALTER PAVICIC; ANDREA CONSTANZA MAYORDOMO; ANDREA ROMINA CAJAL; CARLOS VACCARO; CLAUDIO M. BRAVI; ANACLARA SANCHEZ DOVA; FEDERICO JAUK VITALI; SILVINA RICHARD

Mar del Plata

Congreso; LXIII Reunión anual de la Sociedad Argentina de Investigación Clínica, LXVI Reunión anual de la Sociedad Argentina de Inmunología, y Reunión anual de la Sociedad Argentina de Fisiología; 2018

Sociedad Argentina de Investigación Clínica, Sociedad Argentina de Inmunología & Sociedad Argentina de Fisiología

Mitochondrial DNA (mtDNA) variants -a unique SNPs combination-define specific haplotypes, which are gathered in haplogroupsshowing ethnic differences and a continental-specific distribution.mtDNA haplogroups are suggested to be associated with certain pathologies,including cancer. Aims: 1-Identify mtDNA haplogroups inpatients with oncohematological (OncoHemCa), colorectal (CRC) orbreast cancer (BrCa) and in control samples, 2-Compare frequencieswith those published for the Argentine population, and 3-Analyzethe possible role of mtDNA haplogroups as risk factors. Sample set(blood): 96 cases with OncoHemCa and 272 controls, from a publichospital in La Plata (BsAs, Argentina), plus 68 CRC and 54 BrCacases, recruited at private hospitals from CABA (Argentina) andLa Plata, respectively. A sequencing approach and multiplex PCRAPLPassays were used to determine mitochondrial haplogroups.Assignments were performed using bioinformatic tools, phylogeographicalcriteria and local databases. Regarding OncoHemCa cases,57.3% were assigned to Amerindian, 36.5% to European/MiddleEastern and 6.2% to African lineages. Controls showed 63.5% ofAmerindian, 33.9% of European/Middle Eastern and 2.6% of Africanancestry. About CRC cases, 25% were assigned to Amerindian,69.1% to European/Middle Eastern and 5.9% to African lineages.mtDNA ancestry of BrCa cases was 29.6% Amerindian, 64.8% European/Middle Eastern and 5.6% African. Maternal lineage distributionshowed significant differences among cases from the publicversus private healthcare system (p