Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 78, Issue 5, Pages 747-758Publisher
UNIV CHICAGO PRESS
DOI: 10.1086/503686
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Funding
- NIAID NIH HHS [R56 AI063274, R01 AI063274, R01 AI63274] Funding Source: Medline
- NIAMS NIH HHS [R01 AR052125, AR52125, K08 AR002105, R01 AR43274, R01 AR043274] Funding Source: Medline
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The presence of systemic lupus erythematosus (SLE) susceptibility genes on chromosome 20 is suggested by the observation of genetic linkage in several independent SLE family collections. To further localize the genetic effects, we typed 59 microsatellites in the two best regions, as defined by genome screens. Genotypes were analyzed for statistical linkage and/or association with SLE, by use of a combination of nonparametric linkage methods, family-based tests of association (transmission/disequilibrium and pedigree disequilibrium tests), and haplotype-sharing statistics (haplotype runs test), in a set of 230 SLE pedigrees. Maximal evidence for linkage to SLE was to 20p12 (LOD = 2.84) and 20q13.1 (LOD = 1.64) in the white pedigrees. Subsetting families on the basis of evidence for linkage to 16q12 significantly improved the LOD scores at both chromosome 20 locations (20p12 LOD = 5.06 and 20q13), consistent with epistasis. We then typed 162 single-nucleotide polymorphism markers LOD = 3.65 across a 1.3-Mb candidate region on 20q13.1 and identified several SNPs that demonstrated significant evidence for association. These data provide additional support for linkage and association to 20p12 and 20q13.1 in SLE and further refine the intervals of interest. These data further suggest the possibility of epistatic relationships among loci within the 20q12, 20q13, and 16q12 regions in SLE families.
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