Confirmation of genetic linkage between human systemic lupus erythematosus and chromosome 1q41

Objective Genetic susceptibility to systemic lupus erythematosus (SLE) is undoubtedly complex and, presumably, involves multiple loci. Linkage of SLE to D1S229 at chromosome 1q41 has been previously reported in a cohort of 52 affected sibpairs. The present study sought to confirm this reported linka...

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Published in:	Arthritis and rheumatism Vol. 42; no. 9; pp. 1902 - 1907
Main Authors:	Moser, Kathy L., Gray‐McGuire, Courtney, Kelly, Jennifer, Asundi, Neeraj, Yu, Hua, Bruner, Gail R., Mange, Monique, Hogue, Robert, Neas, Barbara R., Harley, John B.
Format:	Journal Article
Language:	English
Published:	New York John Wiley & Sons, Inc 01-09-1999 Wiley
Subjects:	Biological and medical sciences Black or African American Black People - genetics Chromosomes, Human, Pair 1 - genetics Europe - ethnology Female Genetic Linkage Genotype Humans Lupus Erythematosus, Systemic - genetics Male Medical sciences Microsatellite Repeats - genetics Pedigree Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis United States United States Europe Human Immunopathology Connective tissue disease Skin disease Pathogenesis Autoimmune disease Exploration Genotype Genetic determinism DNA Systemic disease Lupus erythematosus Disseminated
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Summary:	Objective Genetic susceptibility to systemic lupus erythematosus (SLE) is undoubtedly complex and, presumably, involves multiple loci. Linkage of SLE to D1S229 at chromosome 1q41 has been previously reported in a cohort of 52 affected sibpairs. The present study sought to confirm this reported linkage in an independent cohort of 127 extended multiplex SLE pedigrees containing 107 affected sibpairs. Methods Genotype data were collected for D1S229 and 18 flanking microsatellite markers spanning chromosome 1q32–1q42. Analyses of genotype data included a model‐based logarithm of odds (LOD) score approach, affected sibpair analyses, and transmission disequilibrium tests. Results A maximum LOD score of 1.46 was found with D1S229 in a subgroup of 78 European American pedigrees, with additional support from multiple markers clustered around D1S229. Increased allele sharing in affected siblings was most significant at D1S2616, particularly in European Americans (P = 0.0005), followed by D1S229 (P = 0.002), D1S490 (P = 0.028), and D1S1605 (P = 0.037). Although linkage in a subgroup of 40 African American pedigrees was not suggested by the analyses of any marker tested in the chromosomal region surrounding D1S229, a maximum LOD score of 3.03 was found with D1S3462, mapped 15 centimorgans distal to D1S229. Conclusion Our linkage analysis results in European Americans at D1S229 are remarkably similar to those previously reported. That at least 1 genetic effect near this locus is important for susceptibility to lupus should now be generally accepted, and efforts to identify the gene are thereby justified.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0004-3591 1529-0131
DOI:	10.1002/1529-0131(199909)42:9<1902::AID-ANR16>3.0.CO;2-G