Linked Life Data

12083950

Source:http://linkedlifedata.com/resource/pubmed/id/12083950

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2002-6-26
pubmed:abstractText
Systemic lupus erythematosus (SLE) is a complex, multigenic autoimmune disease with a wide spectrum of clinical manifestations. Much of the pathology is attributed to deposition to various tissues of immune complexes continuously formed with autoantibodies; thus, the pathogenesis is related to dysregulation of self-reactive B cells. Recent family linkage studies and allele-sharing linkage analyses of affected sibling pairs have advanced genome screening for susceptibility loci in SLE, and a considerable number of chromosomal intervals with significant or suggestive linkage to SLE have been identified. However, there are still several inherent difficulties in precisely identifying loci and genes, as the complexity of polygenic inheritance of SLE phenotypes is considerable. One must note that each specific aspect of diverse SLE phenotypes (clinical manifestations and immunological abnormalities) is mostly controlled separately by a different set of susceptibility loci. Involvement of positive and negative epistatic gene interactions often puzzles genetic analyses. Studies on SLE using murine lupus models are ongoing to solve some of these difficulties. Comparative studies have identified several syntenic chromosomal intervals with susceptibility loci in both mouse models and humans. Thus, combining knowledge derived from both human and murine studies is vital. The ultimate identification of susceptibility genes and their functions will probably depend largely on studies using genetically manipulated mutant mice, including those with homologous recombination of potent polymorphic target genes. The up-coming completion of genomic sequences in mice and humans is predicted to limit the numbers of potent candidate genes in particular genomic intervals and accelerates this line of studies. Such knowledge will lead to elucidation of genetic and cellular mechanisms involved in the dysregulation of self-reactive lymphocytes in the pathogenesis of SLE. Prophylactic and therapeutic clinical approaches can then be better designed.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
1175-2203
pubmed:author
pubmed:issnType
Print
pubmed:volume
2
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1-12
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
2002
pubmed:articleTitle
Genome screening for susceptibility loci in systemic lupus erythematosus.
pubmed:affiliation
Department of Pathology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan. toshirai@med.juntendo.ac.jp
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't