Repozitorij Medicinskog fakulteta Sveučilišta u Zagrebu

Strategy for mapping quantitative trait loci (QTL) by using human metapopulations

Rudan, Igor and Biloglav, Zrinka and Carothers, Andrew D. and Wright, Alan F. and Campbell, Harry (2006) Strategy for mapping quantitative trait loci (QTL) by using human metapopulations. Croatian Medical Journal, 47 (4). pp. 532-542. ISSN 0353-9504 (Print) 1332-8166 (Electronic)

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    English abstract

    Aim. To present a novel strategy for mapping quantitative trait loci (QTL), using human metapopulations. The strategy is based on the expectation that in geographic clusters of small and distinct human isolates, a combination of founder effect and genetic drift can dramatically increase population frequency of rare QTL variants with large effect. In such cases, the distribution of QT measurements in an “affected” isolate is expected to deviate from that observed in neighboring isolates. - - - - - Methods. We tested this hypothesis in 9 villages from a larger Croatian isolate resource, where 7 Mendelian disorders have been previously reported. The values of 10 physiological and biochemical QTs were measured in a random sample of 1001 individuals (100 inhabitants of each of 9 villages and 101 immigrant controls). - - - - - Results. Significant over- or under- representation of individuals from specific villages in extreme ends of standardized QT measurement distribution was found 10 times more frequently than expected by chance. The large majority of such clusters of individuals with extreme QT values (34/36, 94.4%) originated from the 6 villages with the most pronounced geographic isolation and endogamy. - - - - - Conclusion. Early epidemiological assessment supports the feasibility of the proposed strategy. Clusters of individuals with extreme QT values responsible for over-representation of single villages can usually be linked to a larger pedigree and may be useful for further QTL mapping, using linkage analysis.

    Item Type: Article
    MeSH: Chromosome Mapping ; Genetics , Population ; Models , Genetic ; Quantitative Trait Loci ; Body Height ; Croatia ; Dwarfism - genetics ; Female ; Gene Frequency ; Geography ; Humans ; Male
    Divisions: Katedra za medicinsku statistiku, epidemiologiju i medicinsku informatiku
    Depositing User: Lea Škorić
    Status: Published
    Rudan, Igor
    Biloglav, Zrinka
    Carothers, Andrew D.
    Wright, Alan F.
    Campbell, Harry
    Date: August 2006
    Date Deposited: 04 Dec 2006
    Last Modified: 23 Sep 2011 18:09
    Subjects: /
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