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Genetic Mapping of Susceptibility Genes for Systemic Lupus Erythematosus
Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Genetics and Pathology.
2002 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

Systemic lupus erythematosus (SLE) is a complex autoimmune disease with unknown etiology. The aim of this thesis was to identify susceptibility regions through genetic mapping, using model-based linkage analysis on nuclear and extended SLE multicase families.

In the first paper we performed a genome scan on 19 genetically homogenous Icelandic and Swedish families. One region at 2q37 was identified with a significant linkage with contribution from both populations (Z=4.24). Five other regions 2q11, 4p13, 9p22, 9p13 and 9q13 showed suggestive linkage (Z>2.0).

In the second paper, 87 families from 10 different countries were analysed only for chromosome 1. One region at 1q31 showed significant linkage (Z=3.79) with contribution from families from all populations, including Mexicans and Europeans. Four other regions 1p36, 1p21, 1q23, and 1q25, showed levels of suggestive linkage. Linkage for most regions was highly dependent on what population was used, which indicated strong genetic heterogeneity in the genetic susceptibility for SLE.

In the two last papers, we used the positional candidate gene strategy, in order to investigate candidate genes in two regions linked to SLE. For the Bcl-2 gene (at 18q21) we could not detect any association with SLE using three different markers. However, when we investigated the tightly linked low-affinity family of FcγR genes (at 1q23), we could find association for two risk alleles in the FcγRIIA and FcγRIIIA genes. The risk alleles were transmitted to SLE patients on one specific haplotype and therefore are not independent risk alleles.

The results show that model-based linkage analysis is a strong approach in the search for susceptibility genes behind complex diseases like SLE.

Place, publisher, year, edition, pages
Uppsala: Acta Universitatis Upsaliensis , 2002. , p. 44
Series
Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, ISSN 0282-7476 ; 1208
Keywords [en]
Molecular genetics, Association analysis, Candidate gene, Complex disease, Genome scan, Linkage analysis, Mapping, Susceptibility genes, Systemic lupus erythematosus
Keywords [sv]
Genetik
National Category
Genetics
Research subject
Medical Genetics
Identifiers
URN: urn:nbn:se:uu:diva-2950ISBN: 91-554-5470-4 (print)OAI: oai:DiVA.org:uu-2950DiVA, id: diva2:162168
Public defence
2002-11-30, Rudbeck hall, Uppsala, 09:15
Opponent
Available from: 2002-11-07 Created: 2002-11-07Bibliographically approved

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