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The candidate gene approach: have murine models informed the study of human SLE?

SUMMARY Genome wide linkage studies in human SLE have identified seven highly significant loci linked to SLE, and more than 20 other loci showing suggestive linkage to disease. However, pin‐pointing the susceptibility alleles in candidate genes within these linkage regions is challenging, due the ge...

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Published in:Clinical and experimental immunology 2004-07, Vol.137 (1), p.1-7
Main Authors: CUNNINGHAME GRAHAM, D. S., VYSE, T. J.
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description SUMMARY Genome wide linkage studies in human SLE have identified seven highly significant loci linked to SLE, and more than 20 other loci showing suggestive linkage to disease. However, pin‐pointing the susceptibility alleles in candidate genes within these linkage regions is challenging, due the genetic heterogeneity, racial differences and environmental influences on disease aetiology. Utilization of murine models of spontaneous lupus nephritis provide a complementary approach, which may then identify candidate genes for analysis in human cases. This review highlights the utility of cross‐species approach to identify and characterize the effect of given candidate genes in lupus. The examples described in this review demonstrate the importance of bringing together both genetic and functional information in human and mouse studies.
doi_str_mv 10.1111/j.1365-2249.2004.02525.x
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Psychology ; Fundamental immunology ; Genetic Heterogeneity ; Genetic Linkage - genetics ; Genetic Predisposition to Disease - genetics ; human SLE ; Humans ; Immunity, Innate - genetics ; Immunopathology ; Lupus Erythematosus, Systemic - genetics ; Lupus Erythematosus, Systemic - immunology ; Lupus Nephritis - genetics ; Lupus Nephritis - immunology ; Medical sciences ; Mice ; murine model ; Phenotype ; Receptors, IgG - genetics ; Review</subject><ispartof>Clinical and experimental immunology, 2004-07, Vol.137 (1), p.1-7</ispartof><rights>2004 INIST-CNRS</rights><rights>Copyright Blackwell Scientific Publications Ltd. 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S.</creatorcontrib><creatorcontrib>VYSE, T. J.</creatorcontrib><title>The candidate gene approach: have murine models informed the study of human SLE?</title><title>Clinical and experimental immunology</title><addtitle>Clin Exp Immunol</addtitle><description>SUMMARY Genome wide linkage studies in human SLE have identified seven highly significant loci linked to SLE, and more than 20 other loci showing suggestive linkage to disease. However, pin‐pointing the susceptibility alleles in candidate genes within these linkage regions is challenging, due the genetic heterogeneity, racial differences and environmental influences on disease aetiology. Utilization of murine models of spontaneous lupus nephritis provide a complementary approach, which may then identify candidate genes for analysis in human cases. This review highlights the utility of cross‐species approach to identify and characterize the effect of given candidate genes in lupus. 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subjects Animals
Autoimmunity - genetics
Biological and medical sciences
candidate gene
Disease Models, Animal
Fundamental and applied biological sciences. Psychology
Fundamental immunology
Genetic Heterogeneity
Genetic Linkage - genetics
Genetic Predisposition to Disease - genetics
human SLE
Humans
Immunity, Innate - genetics
Immunopathology
Lupus Erythematosus, Systemic - genetics
Lupus Erythematosus, Systemic - immunology
Lupus Nephritis - genetics
Lupus Nephritis - immunology
Medical sciences
Mice
murine model
Phenotype
Receptors, IgG - genetics
Review
title The candidate gene approach: have murine models informed the study of human SLE?
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