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PMID: 12373647 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

A major susceptibility locus for systemic lupus erythemathosus maps to chromosome 1q31.

American journal of human genetics ·Vol. 71 ·No. 5 ·2002-11-00 ·Pages 1060-71

Johanneson B, Lima G, von Salomé J, Alarcón-Segovia D, Alarcón-Riquelme ME, Collaborative Group on the Genetics of SLE, The BIOMED II Collaboration on the Genetics of SLE and Sjögrens syndrome

Abstract

A set of 87 multicase families with systemic lupus erythemathosus (SLE) from European (Iceland, Sweden, England, Norway, Italy, and Greece) and recently admixed (Mexico, Colombia, and the United States) populations were genotyped and analyzed for 62 microsatellite markers on chromosome 1. By parametric two-point linkage analysis, six regions (1p36, 1p21, 1q23, 1q25, 1q31, and 1q43) were identified that have LOD scores of Z>or=1.50, with different contributions, depending on the population of origin of the families (European or admixed American). All of the regions have been described previously and have therefore been confirmed in this analysis. The locus at 1q31 showed a significant three-point LOD score of Z=3.79 and was contributed by families from all populations, with several markers and under the same parametric model. Analysis of a known mutation in the CD45 gene did not support the role that this mutation plays in disease. We conclude that the locus at 1q31 contains a major susceptibility gene, important to SLE in general populations.

MeSH Terms
Americas Chromosome Mapping Chromosomes, Human, Pair 1 Europe Female Genetic Predisposition to Disease Humans Leukocyte Common Antigens/genetics Lod Score Lupus Erythematosus, Systemic/genetics Male Microsatellite Repeats
Chemicals
Leukocyte Common Antigens
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Johanneson Bo
Institute of Genetics and Pathology, Section for Medical Genetics, University of Uppsala, Uppsala, Sweden.
Lima Guadalupe
von Salomé Jenny
Alarcón-Segovia Donato
Alarcón-Riquelme Marta E
Collaborative Group on the Genetics of SLE, The BIOMED II Collaboration on the Genetics of SLE and Sjögrens syndrome
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
DOI
10.1086/344289
Published
2002-11-00
Epub
2002-00-08
Pages
1060-71
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC385085
Subset
IM
Databases
OMIM
126200, 134370, 146740, 146790, 150290, 151460, 152700, 173870, 177900, 180300, 191191, 222100, 266600, 275700, 601744, 605218, 605480
External Links
PubMed source DOI: 10.1086/344289 PMC Full Text View journal details
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