Repozitorij Medicinskog fakulteta Sveučilišta u Zagrebu

Demonstrating reduced environmental and genetic diversity in human isolates by analysis of blood lipid levels

Polašek, Ozren and Kolčić, Ivana and Smoljanović, Ankica and Stojanović, Dražen and Grgić, Matijana and Ebling, Barbara and Klarić, Maja and Milas, Josip and Puntarić, Dinko (2006) Demonstrating reduced environmental and genetic diversity in human isolates by analysis of blood lipid levels. Croatian medical journal, 47 (4). pp. 649-655. ISSN 0353-9504 (Print) 1332-8166 (Electronic)

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    English abstract

    AIM: To test the hypothesis that phenotypic diversity in isolated human populations is decreased in comparison with general outbred population because of reduced genetic and environmental diversity. To demonstrate this in populations for which reduced genetic and environmental diversity had already been established, by studying the amount of variation in plasma lipid levels. ----- METHODS: Fasting plasma lipid levels (cholesterol, triglycerides, low density lipoprotein [LDL], and high density lipoprotein [HDL]) were measured in randomly selected 300 inhabitants from 2 isolated human populations, the island of Rab and the neighboring islands of Vis and Lastovo, Croatia. The populations were chosen based on previous analyses of genetic diversity and lifestyle patterns, which were shown to be both less diverse and more uniform than the general Croatian population. We studied whether the 25'-75' and 5'-95' interpercentile ranges in observed values were consistently smaller in 2 samples of 300 examinees from isolated populations in comparison with nearly 6000 examinees from an earlier study who were demographically targeted to represent the larger Croatian population. ----- RESULTS: General population had much wider range of observed values of triglycerides and HDL than both isolated populations. However, both isolated populations exhibited greater extent of variation in the levels of LDL, while the ranges of cholesterol values were similar. ----- CONCLUSION: Although reduced genetic and environmental diversity in isolated human populations should necessarily reduce the variance in observed phenotypic values, it appears that specific population genetic processes in isolated populations could be acting to maintain the variation. Departure from the Hardy-Weinberg equilibrium due to consanguinity, sub-structuring and differentiation within the isolates, and increased rate of new mutations could theoretically explain this paradox.

    Item Type: Article
    MeSH: Genetics, Population ; Lipids - blood ; Variation (Genetics) ; Croatia ; Geography ; Humans ; Phenotype
    Divisions: Katedra za medicinsku statistiku, epidemiologiju i medicinsku informatiku
    Depositing User: Lea Škorić
    Status: Published
    Polašek, Ozren
    Kolčić, Ivana
    Smoljanović, Ankica
    Stojanović, Dražen
    Grgić, Matijana
    Ebling, Barbara
    Klarić, Maja
    Milas, Josip
    Puntarić, Dinko
    Date: August 2006
    Date Deposited: 07 Dec 2006
    Last Modified: 23 Sep 2011 18:09
    Subjects: /
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