Whole Genome Association Study of Systemic Lupus Erythematosus

The goal of this collaborative study was to identify new genetic risk factors for Systemic Lupus Erythematosus (SLE). To do this we conducted a genome-wide scan by combining the resources and expertise from a number of SLE researchers to establish a large sample set comprising 1311 SLE cases and 3340 controls. The SLE case samples were genotyped from the following collections: 338 subjects from the Autoimmune Biomarkers Collaborative Network (ABCoN), an NIH/NIAMS funded repository, 141 subjects from the Multiple Autoimmune Disease Genetics Consortium (MADGC), 613 subjects from the University of California San Francisco (UCSF) Lupus Genetics, and 335 subjects from the University of Pittsburgh Medical Center (UPMC), plus 8 samples collected at The Feinstein Institute for Medical Research.

A total of 3583 control samples were examined in the association analyses. As part of this project, 1861 control samples were selected and then genotyped from the New York Cancer Project (NYCP), based on self-described ethnicity, gender and age. In addition, genotype data from 1722 control samples (all self-described North Americans of European descent) were obtained from the publicly available iControlDB database (http://www.illumina.com/pages.ilmn?ID=231).

• Study Design:
  • Case-Control
• Study Type:
  • Case-Control

CASES
All subjects (fulfillment of four or more of the 1997 American College of Rheumatology (ACR) defined criteria was confirmed in all cases by medical record review (94%) or through written documentation of criteria by treating rheumatologists (6%).

CONTROLS
The controls are from the New York Cancer Project (NYCP). These subjects were voluntarily consented for broad use of medical research with de-identified data and samples. The self-reported data include demographics, personal and family medical history, lifestyle, etc. NYCP participants also donated approximately 50 milliliters of blood, which is stored in the NYCP Biorepository at the North Shore Long Island Jewish Research Institute. All NYCP control data generated from this study were deposited in the iControlDB database.

• Primary Phenotype: Lupus Erythematosus, Systemic

• BioProject
• PubMed
• MeSH

• Principal Investigator
  • Timothy W. Behrens, MD. Genentech, Inc., San Francisco, CA, USA.
• Co-Principal Investigator
  • Peter K. Gregersen, MD. The Feinstein Institute for Medical Research, North Shore LIJ, Manhasset, NY, USA.
  • Lindsey Criswell. University of California at San Francisco, San Francisco, CA, USA.
  • Susan Manzi. University of Pittsburgh, Pittsburgh, PA, USA.
• Institutions
  • Genentech, Inc., San Francisco, CA, USA.
  • The Feinstein Institute for Medical Research, North Shore LIJ, Manhasset, NY, USA.
  • Johns Hopkins University, School of Medicine, Baltimore, MD, USA.
  • Karolinska Institutet/Karolinska University Hospital, Stockholm, Sweden.
  • Lund University Hospital, Lund, Sweden.
  • Perlegen Sciences, Inc., Mountain View, CA, USA.
  • Umeå University Hospital, Umeå, Sweden.
  • University of California at Davis, Davis, CA, USA.
  • University of California at San Francisco, San Francisco, CA, USA.
  • University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
  • Uppsala University, Uppsala, Sweden.