izvor podataka: poirot


utjecaj podrijetla i izolacije na ADME gene: primjer romske populacije

Impact of ancestry and isolation on ADME genes - the Roma example

Opis projekta

Contemporary populations’ genomic diversity reflects past demographic and evolutionary events, pronounced in isolated populations. The Roma is an example of a founder population with centuries long sociocultural isolation which left traces in their gene pool which shows considerable differences compared with other populations. The genes that significantly differentiate among populations are those responsible for absorption, distribution, metabolism and excretion of drugs (ADME genes). The knowledge on their distribution in isolated populations is limited. Therefore, in this application we propose to study ADME genes' polymorphisms through the analysis of ADME core markers and CYP2D6 and CYP1A2 genes in 300 DNA samples obtained from three Roma groups in Croatia. The general objective of this project is to determine the variation of ADME genes in Roma population, to assess the extent to which the population history which includes multiple bottleneck/founder events, isolation and endogamy impacted this important gene family. This will be achieved through population structure analysis, the assessment of the age of mutations and in silico functional analysis. We expect to find specific allele distributions of the investigated loci within the ADME genes, landmarks that reflect the Indian origin of the Roma and the signals of admixture with the populations they came in close contact with in the past during their migration from India to Europe. Our assessment of Roma’ unique genetic profile will contribute to the medical practice through the modulation of pharmacotherapy in Roma population. It will also significantly contribute to the field of pharmacogenetics in terms of information on the genetic variation in Roma, essential for the development of pharmacogenetic tests specific for this minority population estimated to around 15 million people. The results promise to highlight the population uniqueness in ADME genes and encourage similar research in the world’s isolates.

Ključne riječi

Znanstveno-istraživački projekti





nije evidentirano

HRK 958.800

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