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616.12-008.313-085:575 (1) |
Patologia sistemului circulator, a vaselor sanguine. Tulburări cardiovasculare (975) |
Genetică generală. Citogenetică generală (427) |
SM ISO690:2012 GALBUR, Viorica, GALEA-ABDUȘA, Daniela, LEVIŢCHI, Alexei, KUROCHKIN, G. S.. Correlation of polymorphism of some genes involved in the metabolism of warfarin on inr in patients with atrial fibrilation in the Republic of Moldova. In: International Congress of Geneticists and Breeders from the Republic of Moldova, Ed. 11, 15-16 iunie 2021, Chişinău. Chișinău, Republica Moldova: Centrul Editorial-Poligrafic al Universităţii de Stat din Moldova, 2021, Ediția 11, p. 50. ISBN 978-9975-933-56-8. DOI: https://doi.org/10.53040/cga11.2021.032 |
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International Congress of Geneticists and Breeders from the Republic of Moldova Ediția 11, 2021 |
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Congresul "International Congress of Geneticists and Breeders from the Republic of Moldova" 11, Chişinău, Moldova, 15-16 iunie 2021 | |||||||
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DOI:https://doi.org/10.53040/cga11.2021.032 | |||||||
CZU: 616.12-008.313-085:575 | |||||||
Pag. 50-50 | |||||||
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Genome wide association studies have been performed in large cohorts, while established associations with different traits were validated in few populations. Genetic profiling of the loci associated with clinical traits became largely accepted, especially in such domain as pharmacogenomics. Determination of the polymorphism associated with drug dosing permit to personalize the treatment. This study has the aim to validate known warfarin dosing genetic variants in the population of Moldova. Two groups of subjects were formed. The first, reference, group included 450 young people, apparently healthy without anticoagulant treatment. In the second group were recruited 164 patients with atrial fibrillation diagnosis at the Institute of Cardiology IMSP and University clinics of cardiology, SUMPh Nicolae Testemitanu. These patients received the treatment with Warfarin. Blood samples were collected and stored in the biobank at -20oC, until further processing. The DNA was extracted using silica column based method. Genotyping results were generated applying TaqMan technique. The following loci associated with warfarin dosing were tested: three loci of the VKORC1 gene (rs9923231, rs9934438, rs8050894), CYP2C9*2 (rs1799853), CYP2C9*3 (rs1057910), GGCX (rs11676382) and CYP4F2 (rs2108622). Studied loci were tested for the HWE (p>0,05). Differences in the allele and genotype frequencies between two groups of subjects were estimated by X2 test and corresponding p value. Our estimations denoted very low frequency of GGCX_rs11676382_GG genotype in the reference group and no patients with such genotype. The frequency of subjects with the genotype CYP2C9*2_rs1799853_TT was close to 1% in both groups. Allele and genotype frequencies of the CYP2C9*3_rs1057910 locus were significantly different between the groups (p=10-3). The loci of the VKORC1 gene showed differences in genotype frequencies (p<0.1), due to the increase of the heterozygote individuals in the group of patients. The differences identified between the studied groups have to be taken into account for the further association analysis. Particularly, these findings must be carefully interpreted when determining the dose of the warfarin, necessary to achieve therapeutic corridor. |
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