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dc.contributor.advisorCampbell, Harry
dc.contributor.advisorWright, Alan
dc.contributor.authorPolasek, Ozren
dc.date.accessioned2011-02-15T09:47:54Z
dc.date.available2011-02-15T09:47:54Z
dc.date.issued2009
dc.identifier.urihttp://hdl.handle.net/1842/4799
dc.description.abstractAim The aim of this study was to investigate the most commonly used approaches to measure individual genome-wide heterozygosity (IGWH) and to investigate whether IGWH can be considered as a health risk factor or a protective factor in humans. Methods This study was based on two samples from isolated communities of Croatian Adriatic islands, with a total of 1,930 adult examinees from Islands of Vis (N=986) and Korcula (N=944). Examinees were genotyped with a total of 302,662 single nucleotide polymorphisms. Heterozygosity was estimated using five commonly calculated methods. Results Correlation coefficients between different heterozygosity methods were generally in the range of 0.7-0.8. A worsening in some phenotypic traits, including cholesterol and triglycerides as well as increased odds for osteoporosis and metabolic syndrome was recorded in cases of IGWH reduction. Nevertheless, in these cases heterozygosity explained a relatively low amount of variance, generally in range of 0.4-0.6% of total trait variance. Conclusion However, these results were significant in Vis Island sample, while in the replication sample, Korcula Island, most of the associations were not significant, possibly due to the overall lower amount of inbreeding and higher heterozygosity in Korcula Island sample. The results warrant further research in order to provide more information on the extent and importance of individual genome-wide heterozygosity, which might have an important role in communities which experience consanguinity on a greater scale. Two main shortcomings of the study include possible lack of power to detect inbreeding depression and the need to replicate the results in other populations.en
dc.language.isoenen
dc.publisherThe University of Edinburghen
dc.relation.hasversionCarothers AD, Rudan I, Kolcic I, Polasek O, Hayward C, Wright AF, et al. Estimating human inbreeding coefficients: Comparison of genealogical and marker heterozygosity approaches. Annals of Human Genetics. 2006;70:666-76.en
dc.relation.hasversionPulanic D, Polasek O, Petrovecki M, Vorko-Jovic A, Pericic M, Barac Lauc L, et al. Effects of isolation and inbreeding on human quantitative traits: An example of biochemical markers of hemostasis and inflammation. Hum Biol. 2008;80(5):513-33.en
dc.relation.hasversionRudan I, Carothers AD, Polasek O, Hayward C, Vitart V, Biloglav Z, et al. Quantifying the increase in average human heterozygosity due to urbanization. European Journal of Human Genetics. 2008;16(9):1097-102.en
dc.relation.hasversionPolasek O, Kolcic I, Vorko-Jovic A, Kern J, Rudan I. Seasonality of births in Croatia. Collegium Antropologicum. 2005;29:249-55.en
dc.relation.hasversionKnezevic A, Polasek O, Gornik O, Rudan I, Campbell H, Hayward C, et al. Variability, Heritability and Environmental Determinants of Human Plasma N-Glycome. Journal of Proteome Research. 2009;8:694-701.en
dc.relation.hasversionSmoljanovic A, Vorko-Jovic A, Kolcic I, Bernat R, Stojanovic D, Polasek O. Micro-scale socioeconomic inequalities and health indicators in a small isolated community of vis island, Croatia. Croatian Medical Journal. 2007;48(5):734-40.en
dc.subjectgenetic epidemiologyen
dc.subjectgenome-wide heterozygosityen
dc.subjectrisk factoren
dc.subjectCroatiaen
dc.titleInvestigating the role of human genomewide heterozygosity as a health risk factoren
dc.typeThesis or Dissertationen
dc.type.qualificationlevelDoctoralen
dc.type.qualificationnamePhD Doctor of Philosophyen


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