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The COL11A1 gene is associated with human stature in two population cohorts
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Manuscript (Other academic)
URN: urn:nbn:se:uu:diva-96373OAI: oai:DiVA.org:uu-96373DiVA: diva2:170927
Available from: 2007-11-02 Created: 2007-11-02 Last updated: 2010-01-13Bibliographically approved
In thesis
1. Analysis of Complex Genetic Traits in Population Cohorts using High-throughput Genotyping Technology
Open this publication in new window or tab >>Analysis of Complex Genetic Traits in Population Cohorts using High-throughput Genotyping Technology
2007 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

Most human traits and common diseases have a complex genetic makeup involving more than one gene. The work presented in this thesis investigates standing body height and the common disease type 2 diabetes mellitus (T2DM). In study I we analyzed two single nucleotide polymorphisms (SNPs) in the TCF7L2 gene that had been shown to be associated with T2DM. Analysis was performed in the ULSAM population cohort of ~1500 males. We were able to replicate the association to type 2 diabetes and in addition to that we made a novel find, showing association between the risk alleles and increased proinsulin levels. In study II we analyzed four genes identified to be associated with T2DM in a genome-wide association study. We analyzed SNPs in these genes in the ULSAM population cohort and found an association between SNPs in the HHEX gene and insulin responses and insulin levels.

The aim of studies III-V was to identify genes affecting normal variation in standing body height. Using a candidate gene approach in study III, 17 genes were screened in the ULSAM population cohort using SNPs. A suggestive association of the ESR1 gene with height was found and confirmed as significant in males from the PIVUS population cohort. In study IV, as a part of the GenomEUtwin project, we performed genetic fine mapping of a linked locus for body height on the X-chromosome. By analyzing 1377 SNPs in 780 Finnish twins, we mapped a region spanning 65kb of this locus with linkage to body height in males. This region contains the GPC3 and PHF6 genes that have known connections to syndromes were standing body height is affected. In study V significant linkage and association to standing body height in males was found for the COL1A11 gene, using population cohorts from Finland and Iceland.

Place, publisher, year, edition, pages
Uppsala: Acta Universitatis Upsaliensis, 2007. 56 p.
Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, ISSN 1651-6206 ; 287
Molecular medicine, SNP, TCF7L2, HHEX, COL11A1, ESR1, body height, type 2 diabetes mellitus, proinsulin, ULSAM, complex genetic trait, genotyping technology, Molekylärmedicin
urn:nbn:se:uu:diva-8291 (URN)978-91-554-7007-4 (ISBN)
Public defence
2007-11-24, Rudbecksalen, Rudbecklaboratoriet, Dag Hammarskjölds väg 20, Uppsala, 13:00
Available from: 2007-11-02 Created: 2007-11-02Bibliographically approved

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