Распределение вариантов однонуклеотидного полиморфизма rs6795970 гена SCN10A среди молодого населения Республики Молдова

Distribuția variantelor polimorfismului de un singur nucleotid rs6795970 al genei SCN10A la populația tânără din Republica MoldovaBackground. PR interval reflects atrial and atrioventricular nodal conduction time and is an important determinant of arrhythmia risk. Genome-wide association studies (GWAS) have identified association of nonsynonymous SNP, rs6795970, in the SCN10A gene with PR interval in individuals of European ancestry. Purpose. To estimate the distribution of rs6795970 variants, associated with PR interval in young population of Republic of Moldova. Methods. 1390 young participants from Republic of Moldova with age range: 19-25 years, were genotyped for rs6795970 in the SCN10A gene, using TaqMan technology. Results. The genotype A/A, A/G, G/G distributions of rs6795970 among the young participants were 15%, 48%, 37% respectively (χ2 = 0.161, p = 0.688). The allele frequencies for A and G in young participants were 39% and 61% respectively. Conclusion. The minor allele frequency (MAF) in young Moldavian population was 0.39 for rs679570 and was consistent with 1000 Genomes Project data in the European population – 0.41. 15% of all participants (the AA genotype), may have an increased risk of conduction abnormalities.Распределение вариантов однонуклеотидного полиморфизма rs6795970 гена SCN10A среди молодого населения Республики Молдов

Distribution of rs6795970 SNP variants in SCN10A gene in young population of the Republic of Moldova.

Background. PR interval reflects atrial and atrioventricular nodal conduction time and is an important determinant of arrhythmia risk. Genome-wide association studies (GWAS) have identified association of nonsynonymous SNP, rs6795970, in the SCN10A gene with PR interval in individuals of European ancestry. Purpose. To estimate the distribution of rs6795970 variants, associated with PR interval in young population of Republic of Moldova. Methods. 1390 young participants from Republic of Moldova with age range: 19-25 years, were genotyped for rs6795970 in the SCN10A gene, using TaqMan technology. Results. The genotype A/A, A/G, G/G distributions of rs6795970 among the young participants were 15%, 48%, 37% respectively (χ2 = 0.161, p = 0.688). The allele frequencies for A and G in young participants were 39% and 61% respectively. Conclusion. The minor allele frequency (MAF) in young Moldavian population was 0.39 for rs679570 and was consistent with 1000 Genomes Project data in the European population – 0.41. 15% of all participants (the AA genotype), may have an increased risk of conduction abnormalities

Analiza explorativă a seturilor microarray de gene pentru diagnosticul molecular

University of the Academy of Science of MoldovaThe aim of the investigation was exploratory analysis of the free available expression microarray datasets for the identification of candidate genes hypothetically involved in manifestation of cardiovascular diseases. Applying developed methodology, there was determined a set of 6088 of candidate genes. These findings were validated through two sets of genes: cardiovascular priority genes and associated genes. It showed that 10 per cent of the genes belong to one of the list, while the other represents a set of special interest to be demonstrated their involvement in cardiovascular diseases. To be noted more then 2000 genes have no annotation and their functions still need to be clarified. This set of genes potentially can be applied for the development of a cardio-chip for the molecular diagnosis of various CV pathologies. Analiza explorativă a seturilor microarray de gene pentru diagnosticul molecular Scopul lucrării a fost evidenţierea genelor implicate în bolile cardiovasculare prin analiza explorativă a seturilor de date microarray. Pentru extragerea şi prelucrarea datelor a fost utilizată o metodologie de lucru, elaborată în cadrul Laboratorului de Bioinformatică, CUBM, UnAŞM. În baza nivelului de expresie a genelor analizate, a fost determinat un set de 6088 gene candidate, ipotetic implicate în bolile cardiovasculare. Aceste rezultate au fost validate în baza a două liste de gene: gene cardiovasculare prioritare şi gene asociate bolilor cardiovasculare. În urma validării, s-a stabilit că 10% din gene aparţin uneia din liste, în timp ce celelalte gene reprezintă interes deosebit pentru cercetare, fiind lipsite de dovezi privind implicarea lor în bolile cardiovasculare. Genele identificate în urma analizei, vor putea fi utilizate pentru elaborarea unui cardio-chip pentru diagnosticul molecular al patologiilor cardiovasculare