Genome scan of human systemic lupus erythematosus: Evidence for linkage on chromosome 1q in African-American pedigrees

ECU Author/Contributor (non-ECU co-authors, if there are any, appear on document)
Nabih I. Abdou (Creator)
Daniel A. Albert (Creator)
Neeraj Asundi (Creator)
Debra Bacino (Creator)
Gail R. Bruner (Creator)
Craig Carson (Creator)
Myron Dietz (Creator)
Jerome Fox (Creator)
Courtney Gray-McGuire (Creator)
John B. Harley (Creator)
Stephanie Henshall (Creator)
Robert Hogue (Creator)
Judith A. James (Creator)
Jennifer Kelly (Creator)
Gerald Koelsch (Creator)
Kathy L. Moser (Creator)
Barbara R. Neas (Creator)
Lydia Nightingale (Creator)
Michelle Petri (Creator)
Jane E. Salmon (Creator)
Tim Shaver (Creator)
Edward L. Treadwell (Creator)
Hua Yu (Creator)
East Carolina University (ECU )
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Abstract: Systemic lupus erythematosus (SLE) is an autoimmune disorder characterized by production of autoantibodies against intracellular antigens including DNA ribosomal P Ro (SS-A) La (SS-B) and the spliceosome. Etiology is suspected to involve genetic and environmental factors. Evidence of genetic involvement includes: associations with HLA-DR3 HLA-DR2 Fc! receptors (Fc!R) IIA and IIIA and hereditary complement component deficiencies as well as familial aggregation monozygotic twin concordance >20% "s >10 purported linkage at 1q41–42 and inbredmouse strains that consistently develop lupus. We have completed a genome scan in 94 extended multiplex pedigrees by using model-based linkage analysis. Potential [log10 of the odds for linkage (lod) > 2.0] SLE loci have been identified at chromosomes 1q41 1q23 and 11q14–23 in African-Americans; 14q11 4p15 11q25 2q32 19q13 6q26–27 and 12p12–11 in European- Americans; and 1q23 13q32 20q13 and 1q31 in all pedigrees combined. An effect for the Fc!RIIA candidate polymorphism) at 1q23 (lod # 3.37 in African-Americans) is syntenic with linkage in a murine model of lupus. Sib-pair and multipoint nonparametric analyses also support linkage (P < 0.05) at nine loci detected by using two-point lod score analysis (lod > 2.0). Our results are consistent with the presumed complexity of genetic susceptibility to SLE and illustrate racial origin is likely to influence the specific nature of these genetic effects. Originally published Proceedings of the National Academy of Sciences Vol. 95 No. 25 Dec 1998

Additional Information

Proceedings of the National Academy of Sciences. 95:25(December 1998) p. 14869-14874.
Language: English
Date: 2011
systemic lupus erythematosus, SLE loci, racial origin

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