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Autoimmune Diseases
Volume 2013, Article ID 761046, 11 pages
Research Article

Genome-Wide Association Study of Antiphospholipid Antibodies

1Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA
2Division of Rheumatology, Department of Medicine, West Penn Allegheny Health System, Pittsburgh, PA 15212, USA
3Divisions of Clinical Immunology/Allergy, and Clinical Epidemiology, Department of Medicine, McGill University, Montreal, QC, Canada H3A 1A1
4Division of Rheumatology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA

Received 5 November 2012; Revised 10 January 2013; Accepted 10 January 2013

Academic Editor: Ricard Cervera

Copyright © 2013 M. Ilyas Kamboh et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Background. The persistent presence of antiphospholipid antibodies (APA) may lead to the development of primary or secondary antiphospholipid syndrome. Although the genetic basis of APA has been suggested, the identity of the underlying genes is largely unknown. In this study, we have performed a genome-wide association study (GWAS) in an effort to identify susceptibility loci/genes for three main APA: anticardiolipin antibodies (ACL), lupus anticoagulant (LAC), and anti-β2 glycoprotein I antibodies (anti-β2GPI). Methods. DNA samples were genotyped using the Affymetrix 6.0 array containing 906,600 single-nucleotide polymorphisms (SNPs). Association of SNPs with the antibody status (positive/negative) was tested using logistic regression under the additive model. Results. We have identified a number of suggestive novel loci with . Although they do not meet the conservative threshold of genome-wide significance, many of the suggestive loci are potential candidates for the production of APA. We have replicated the previously reported associations of HLA genes and APOH with APA but these were not the top loci. Conclusions. We have identified a number of suggestive novel loci for APA that will stimulate follow-up studies in independent and larger samples to replicate our findings.