miRNAen prozesamendu geneen aldakortasuna genetikoa OSn

Abstract

Osteosarkomaren (OS) aldagai genetikoa genetan aztertu da orain arte, baina geneak genomaren 1,5% osatzen dute eta gainontzekoa RNA ez kodifikatzaileak omen dira. OS-an miRNAen adierazpenean aldaketak behatu dira. Adierazpen aldaketa hauek miRNAen prozesamendu genetan dauden SNPek eragin ditzakete. Ikerketa lan honen helburua miRNAen prozesamendu genetan dauden SNPak OS-ren suszeptibilitatean eragin dezaketen jakitea. Horretarako, miRNAen prozesamenduarekin erlazionatutako 21 genetan 72 SNP aztertu genituen 99 OS eta 387 kontrol laginetan. Hiru SNP topatu genituen OS-ren suszeptibilitatearekin asoziaturik 3 hiru prozesamendu genetan, denak RISC konplexuan. Konplexu honen SNPak OS-ren suszeptibilitatearen markatzaile genetiko berriak izan daitezke.

The contribution of genetic variants in osteosarcoma (OS) has been focused mainly on genes of biologically plausible pathways. However, these genes constitute 1,5% of the genome, leaving a 95% to non coding RNAs. miRNA deregulation has been observed in OS which could be due to genetic variation in miRNA processing genes. The aim of this study was to evaluate whether SNPs in miRNA processing genes confer predisposition to OS. We analyzed 72 SNPs in 21 miRNA processing genes in a total of 99 OS patients and 387 controls. A total of three SNPs were associated with OS susceptibility, all part of the RISC complex. This study suggests that SNPs in the RISC complex genes may be involved in OS susceptibility.