Title Investigation of the genetic structure of Lithuanian population, based on the analysis of disease-associated single nucleotide polymorphisms /
Translation of Title Lietuvos populiacijos genetinės struktūros tyrimas remiantis vieno nukleotido polimorfizmų asociacijos su liga analize.
Authors Domarkienė, Ingrida
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Pages 56
Keywords [eng] SNP ; CHD ; genetic disease architecture ; GWAS
Abstract [eng] This dissertation should supplement the knowledge of the genetic coronary heart disease (CHD) architecture by analysing known common variation as well as finding novel associated loci and genes. Genotype and allele frequencies, also haplotype blocks were determined in the Lithuanian population according to the list of 60 SNPs associated with CHD. The number of risk alleles per person was determined. The intrapopulation comparison of allele frequencies and haplotype blocks was performed. Allele frequencies were compared with different populations of European ancestry. The association analyses for new loci and candidate gene identification were performed. It was revealed that the common and unique genetic disease architecture variants for different populations exist. Regarding the genetic structure and diversity of the risk SNPs of CHD, Lithuanian population as compared with the European populations falls into the Northern-Southern gradient showing that the Lithuanian gene pool could have experienced the geographical climate and ecological influence during the evolution process. Considering the risk allele number per person of the investigated SNPs, the majority of Lithuanian population individuals have a relatively average risk of developing CHD. Association analyses showed eight new loci associated with CHD, four of which were confirmed and ITPR2 and FBXL17 were found to be the putative candidate genes that could participate in the pathogenesis of CHD and atherosclerosis.
Type Summaries of doctoral thesis
Language English
Publication date 2014