A genome-wide study of lupus: Preliminary analysis and data release

Alessandra C.L. Cervino, Nicholas F. Tsinoremas, Robert W. Hoffman

Research output: Chapter in Book/Report/Conference proceedingConference contribution

32 Scopus citations


Systemic lupus erythematosus (SLE) is a complex autoimmune disease in which genetics is one of the underlying risk factors. Complicating the analysis of SLE is the fact that the phenotype is heterogeneous, with variations in clinical features, and subgroups are associated with a variety of different autoantibodies. Many association studies of candidate genes as well as linkage studies have generated significant results, highlighting the multigenetic component of the disease. Those findings need to be replicated by independent laboratories and many other genes still remain to be identified. Here, we present our findings on the first genome-wide association study performed in 105 Caucasian patients and controls using the Affymetrix NspI array. The SLE patients studied here were all characterized by the presence of autoantibodies against the U1-6 small nuclear ribonucleoprotein antigen spliceosomal complex. Testing each SNP individually for association with disease, we identified 7 markers with an uncorrected P-value < 0.0001. Of those, three were in reported regions of linkage, namely 20p12, 2q37, and 4p15. To increase the power of our study,we included 60 controls corresponding to the parents from the publicly available CEPH families. The analysis of the 165 cases and controls leads to 28 SNPs being associated with an uncorrected P-value < 0.0001.

Original languageEnglish (US)
Title of host publicationAutoimmunity, Part B Novel Applications of Basic Research
PublisherBlackwell Publishing Inc.
Number of pages9
ISBN (Print)1573317098, 9781573317092
StatePublished - Sep 2007
Externally publishedYes

Publication series

NameAnnals of the New York Academy of Sciences
ISSN (Print)0077-8923
ISSN (Electronic)1749-6632


  • Association
  • Genome-wide
  • Lupus
  • MCTD
  • SLE
  • SNP

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)


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