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Identifier 000419742
Title Tracing disease variants in healthy populations
Alternative Title Ανίχνευση πολυμορφισμών που σχετίζονται με ασθενείς σε υγιείς πληθυσμούς
Author Μαθιουδάκη, Άννα Α.
Thesis advisor Παυλίδης, Παύλος
Thesis advisor Σπηλιανάκης, Χαράλαμπος
Νικολάου, Χριστόφορος
Abstract The study of the genetic background of complex traits and diseases is of great interest due to its contribution to the understanding of the underlying related biological mechanisms. Here, we traced disease variants from the ClinVar database in 2,504 healthy individuals of the 1000 Genomes Projects. Interestingly, we identified 1.690 variants to be present. Our goal was to investigate their presence in healthy individuals; to trace their origin and course among populations and unravel their impact in the genotype. Thus, we implemented Population Genetics methodologies on haplotypes carrying the disease allele, clarifying the genetic variation within those haplotypes and detecting negative selection and demographic model for those haplotypes. We noticed that none of those are located in sex chromosomes. We could not identify any general pattern of population stratification since some patterns imply isolated populations and some mixed, with varying measurements of genotypic differentiation. Moreover, we identified 111 genomic regions in the neighborhood of pathogenic alleles indicating to be under positive selection. Though, there was no correlation between frequency within the healthy individuals and those selection events. Our study identifies specific population patterns of the variants’ haplotypes and supports the aspect of misclassification of variants in ClinVar database.
Language English
Subject Genetic diseases
Genetic variation
Population genetics
Γενετικές ασθένειες
Γενετική ποικιλομορφία
Πληθυσμιακή γενετική
Issue date 2018-11-23
Collection   Faculty/Department--Faculty of Sciences and Engineering--Department of Biology--Post-graduate theses
  Type of Work
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